Recombinant Human Alpha-galactosidase A (GLA)

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Code CSB-EP009474HU
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Size $224
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  • (Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.
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Product Details

Purity
Greater than 90% as determined by SDS-PAGE.
Target Names
Uniprot No.
Research Area
Cardiovascular
Alternative Names
AGAL_HUMAN; Agalsidase alfa; Alpha D galactosidase A; Alpha D galactoside galactohydrolase 1; Alpha D galactoside galactohydrolase; Alpha gal A; Alpha galactosidase A; Alpha-D-galactosidase A; Alpha-D-galactoside galactohydrolase; Alpha-galactosidase A; GALA; Galactosidase; alpha; GLA; GLA protein; Melibiase
Species
Homo sapiens (Human)
Source
E.coli
Expression Region
32-429aa
Target Protein Sequence
LDNGLARTPTMGWLHWERFMCNLDCQEEPDSCISEKLFMEMAELMVSEGWKDAGYEYLCIDDCWMAPQRDSEGRLQADPQRFPHGIRQLANYVHSKGLKLGIYADVGNKTCAGFPGSFGYYDIDAQTFADWGVDLLKFDGCYCDSLENLADGYKHMSLALNRTGRSIVYSCEWPLYMWPFQKPNYTEIRQYCNHWRNFADIDDSWKSIKSILDWTSFNQERIVDVAGPGGWNDPDMLVIGNFGLSWNQQVTQMALWAIMAAPLFMSNDLRHISPQAKALLQDKDVIAINQDPLGKQGYQLRQGDNFEVWERPLSGLAWAVAMINRQEIGGPRSYTIAVASLGKGVACNPACFITQLLPVKRKLGFYEWTSRLRSHINPTGTVLLQLENTMQMSLKDLL
Note: The complete sequence including tag sequence, target protein sequence and linker sequence could be provided upon request.
Mol. Weight
49.4kDa
Protein Length
Full Length of Mature Protein
Tag Info
N-terminal 6xHis-tagged
Form
Liquid or Lyophilized powder
Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
Buffer
Tris-based buffer,50% glycerol
Troubleshooting and FAQs
Storage Condition
Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
Shelf Life
The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
Lead Time
3-7 business days
Notes
Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
Datasheet & COA
Please contact us to get it.
Description

Alpha-galactosidase A (GLA) is a crucial enzyme involved in lysosomal function and lipid metabolism. GLA is responsible for hydrolyzing the terminal alpha-galactosyl moiety from glycoconjugates [1]. Mutations in the GLA gene lead to Fabry disease, a rare X-linked disorder characterized by deficient activity of GLA, resulting in the intracellular accumulation of enzyme substrates inside lysosomes [2]. This accumulation, particularly of globotriaosylceramide-3 (Gb3), is specific to Fabry disease with classical mutations and is associated with small fiber neuropathy [3].

Fabry disease can present with symptoms mimicking hypertrophic cardiomyopathy, emphasizing the importance of genetic screening to establish a diagnosis, especially in women [4]. The absence or deficiency of GLA enzyme due to mutations results in multiorgan glycosphingolipid accumulations, leading to various clinical manifestations [5]. Chaperone therapy has been explored in Fabry disease to address the underlying enzyme deficiency [6].

The cardiovascular phenotype in Fabry disease has been linked to residual GLA activity, which may influence disease progression and the manifestation of clinical signs [7]. Dysregulation of immune response mediators and pain-related ion channels has been associated with pain-like behavior in Fabry disease, highlighting the complex interplay between GLA mutations and symptomatology [8]. Additionally, cornea verticillata has been reported in classical Fabry disease cases, further underlining the diverse systemic manifestations of GLA mutations.

References:
[1] S. Wu, L. Xiang, J. Geng, M. Zhang, N. Xie, & X. Su, "Hydroxychloroquine-induced renal phospholipidosis resembling fabry disease in undifferentiated connective tissue disease: a case report", World Journal of Clinical Cases, vol. 7, no. 24, p. 4377-4383, 2019. https://doi.org/10.12998/wjcc.v7.i24.4377
[2] R. Liguori, A. Incensi, S. Pasqua, R. Mignani, E. Fileccia, M. Santostefanoet al., "Skin globotriaosylceramide 3 deposits are specific to fabry disease with classical mutations and associated with small fibre neuropathy", Plos One, vol. 12, no. 7, p. e0180581, 2017. https://doi.org/10.1371/journal.pone.0180581
[3] O. Havndrup, M. Christiansen, B. Stoevring, M. Jensen, J. Hoffman-Bang, P. Andersenet al., "Fabry disease mimicking hypertrophic cardiomyopathy: genetic screening needed for establishing the diagnosis in women", European Journal of Heart Failure, vol. 12, no. 6, p. 535-540, 2010. https://doi.org/10.1093/eurjhf/hfq073
[4] S. Gaballa, A. AlJaf, J. Lindsay, K. Patel, & K. Hlaing, "Rare etiology of renal failure in a 25-year-old caucasian man: fabry disease with a novel mutation of gla gene", Cureus, 2020. https://doi.org/10.7759/cureus.9136
[5] F. Weidemann, A. Jovanović, K. Herrmann, & İ. Vardarli, "Chaperone therapy in fabry disease", International Journal of Molecular Sciences, vol. 23, no. 3, p. 1887, 2022. https://doi.org/10.3390/ijms23031887
[6] D. Sorriento and G. Iaccarino, "The cardiovascular phenotype in fabry disease: new findings in the research field", International Journal of Molecular Sciences, vol. 22, no. 3, p. 1331, 2021. https://doi.org/10.3390/ijms22031331
[7] M. Spitzel, E. Wagner, M. Breyer, D. Henniger, M. Bayin, L. Hofmannet al., "Dysregulation of immune response mediators and pain-related ion channels is associated with pain-like behavior in the gla ko mouse model of fabry disease", Cells, vol. 11, no. 11, p. 1730, 2022. https://doi.org/10.3390/cells11111730
[8] H. Hewavitharana, E. Jasinge, H. Abeysekera, & J. Wanigasinghe, "Cornea verticillata in classical fabry disease, first from sri lanka: a case report", BMC Pediatrics, vol. 20, no. 1, 2020. https://doi.org/10.1186/s12887-020-02237-z

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Target Background

Function
Catalyzes the hydrolysis of glycosphingolipids and participates in their degradation in the lysosome.
Gene References into Functions
  1. GLA variants found included R118C (n = 2), D83N, and D313Y (n = 7); IVS6-22 C>T, IVS4-16 A>G, IVS2+990C>A, 5'UTR-10 C>T (n = 4), IVS1-581 C>T, IVS1-1238 G>A, 5'UTR-30 G>A, IVS2+590C>T, IVS0-12 G>A, IVS4+68A>G, IVS0-10 C>T, IVS2-81-77delCAGCC, IVS2-77delC. We found that patients with common heart disease did not contain a substantial number of patients with undiagnosed Fabry disease. PMID: 29227985
  2. GLA DNA screening protocols starting from the dialysis population and upstream extended to families of affected individuals may be an effective strategy to maximize the early identification of subjects with Fabry disease. PMID: 30099469
  3. family study with the classical phenotype of Fabry disease due to the novel nonsense mutation c.607G>T (p.E203X) of the GLA gene; the Fabry disease phenotype is highly variable in heterozygote females, even within the same family PMID: 28152533
  4. It negatively regulates calcification of human aortic valve interstitial cells. PMID: 29653899
  5. Results from a study on gene variability markers in early-stage human embryos shows that GLA is a putative variability marker for the 3-day, 8-cell embryo stage. PMID: 26288249
  6. Presence of isolated heterozygous -10C >T SNP is not associated with clinically relevant symptoms or organ manifestations as seen in Fabry disease. PMID: 29794742
  7. The D313Y variant in the GLA gene was not Fabry disease causative in 2 Danish families. PMID: 29037082
  8. The mutation p.D313Y in the GLA gene may lead to organ manifestations and elevation of the Fabry-specific biomarker lyso-globotriaosylsphingosine. PMID: 28276057
  9. Four novel GLA pathogenic mutations are reported and evidence of pathogenicity of the D313Y mutation is provided. PMID: 28988177
  10. alpha-Galactosidase A genotype N215S does not lead to the development of a classical Fabry phenotype but induces a specific cardiac variant of Fabry disease mimicking nonobstructive hypertrophic cardiomyopathy. PMID: 29018006
  11. GLA c.196G>C variant is a genetic risk factor for cerebral small-vessel occlusion and non-cardioembolism in Japanese males but not in females. PMID: 28275245
  12. we presented the clinical characters of a Chinese FD pedigree mimicking familial episodic pain. Furthermore, our finding suggests that a novel double mutation of GLA (c.273_276del TGAT in cis with c.281G>T) is associated with FD PMID: 27531472
  13. Results showed that most Fabry disease patients carrying GLA IVS4+919A did not show abnormal cardiac phenotypes. The near-absence of GLA IVS4+919A in heart disease cohort suggested that this variant is not a frequent cause of overt heart diseases in Taiwan. PMID: 28377241
  14. This longitudinal Fabry Registry study analyzed data from patients with Fabry disease to determine the incidence and type of severe clinical events following initiation of enzyme replacement therapy (ERT) with agalsidase beta, as well as risk factors associated with occurrence of these events PMID: 27510433
  15. alpha-galactosidase A mutation, IVS4-type Fabry disease has features similar to those of classic Fabry disease and a higher frequency of deep white matter hyperintensities and a higher incidence of infarctions and pulvinar signs than in healthy controls PMID: 26869469
  16. We demonstrate that the wild-type sequence harbors an hnRNP A1 and hnRNP A2/B1-binding exonic splicing silencer (ESS) overlapping the 5'splice site (5'ss) that prevents pseudoexon inclusion.we demonstrate that splice switching oligonucleotide (SSO) mediated blocking of the pseudoexon 3'ss and 5'ss effectively restores normal GLA splicing PMID: 27595546
  17. Four patients had non-amenable mutant forms of a-Gal based on the validated cell-based assay conducted after treatment initiation and were excluded from primary efficacy analyses only. PMID: 27834756
  18. Mesenchymal stem cells with reduced GLA activity are prone to apoptosis and senescence due to impaired autophagy and DNA repair capacity. PMID: 28098348
  19. we review the various types of GLA variants and recommend that pathogenicity be considered only when associated with elevated globotriaosylceramide in disease-relevant organs and tissues as analyzed by mass spectrometry. PMID: 27195818
  20. findings revealed the alternative splicing mechanism of GLA (IVS4+919G>A), and a potential treatment for this specific genetic type of Fabry disease by amiloride in the future PMID: 28430823
  21. Results found a novel heterozygous stop codon mutation in exon 1 of the GLA gene in female patients with Fabry Disease with methylation in the non-mutated allele thought to be associated with the clinical severity of the disease. PMID: 28087245
  22. Study described the demographic data, wide clinical spectrum of phenotypes, and GLA mutation spectrum of Fabry disease in Korea. Most of the patients had classical Fabry disease, with a 4 times higher incidence than that of late-onset Fabry disease, indicating an underdiagnosis of mild, late-onset Fabry disease. PMID: 28723748
  23. we reviewed other small molecules that were reported to have a stabilizing effect on some GLA missense mutations in vitro and might be developed to act in synergy or as an alternative to 1-deoxygalactonojirimycin PMID: 27916943
  24. No pathogenic mutations in the coding regions of the GLA gene were identified in this group of patients and thus no Fabry disease was found in this study. PMID: 26981927
  25. High desphospho-uncarboxylated matrix Gla protein level, reflecting a poor vitamin K status, seems to be associated with kidney damage and may be also a marker of cardiovascular risk in CKD patients PMID: 27100101
  26. Similar central nervous system manifestations in patients with the IVS4 mutation or classical Fabry mutations. PMID: 28166746
  27. Case Report: Kidney transplantation from a mother with unrecognized Fabry disease to her son with low alpha-galactosidase A activity. PMID: 26971403
  28. p.M187R GLA mutation in Fabry disease causes a severe systemic and ophthalmologic phenotype, in both male and female patients. PMID: 28225726
  29. The results of the current study suggest that the GLA haplotype D313Y does not lead to severe organ manifestations as seen in genotypes known to be causal for classical Fabry disease. PMID: 27059467
  30. We report a case of Fabry disease with a p.R301X (c.901 C>T) mutation in a 39-year-old man who was being treated for chronic sclerosing glomerulonephritis for 2 years. Family screening tests showed that the proband's mother, sister, and daughter had the same mutation with different phenotypes. PMID: 27156739
  31. Case Report: hypertrophic obstructive cardiomyopathy with Fabry disease with the GLA E66Q mutation. PMID: 27160240
  32. We conclude that a mild GLA variant is typically characterized by high residual enzyme activity and normal biomarker levels. We found evidence that these variants can still be classified as a distinctive, but milder, sub-type of FD. PMID: 26415523
  33. Fabry disease, an X-linked disorder of glycosphingolipids that is caused by mutations of the GLA gene that codes for alpha-galactosidase A, leads to dysfunction of many cell types and includes a systemic vasculopathy. PMID: 26564084
  34. Study describes 5 novel mutations found in the GLA gene of patients with clinical diagnosis of Fabry disease. PMID: 26691501
  35. The present study confirms the heterogeneity of mutations in Fabry disease and the importance of molecular analysis for genetic counseling, female heterozygotes detection as well as therapeutic decisions. PMID: 26297554
  36. GLA gene variations correlate with globotriaosylceramide and globotriaosylsphingosine analog levels in urine and plasma PMID: 26070511
  37. results directly implicated the GLA mutation p.E66Q as the genetic etiology of the Chinese renal variant FD pedigree. PMID: 26456105
  38. This study indicated that the p.E66Q variant of GLA does not affect the progression of chronic kidney disease. PMID: 24718812
  39. Thus, inheritance of the CIH caused an mRNA deregulation altering the GLA expression pattern, producing a tissue glycolipid storage. PMID: 26334996
  40. data strongly suggest that the GLA p.(Arg118Cys) variant does not segregate with Fabry disease clinical phenotypes in a Mendelian fashion, but might be a modulator of the multifactorial risk of cerebrovascular disease PMID: 25468652
  41. In Fabry disease patients, the alpha-galactosidase A-10T allele appears to be causal for neurological manifestations. PMID: 25423912
  42. Some clinical cases of some members of a Sicilian family to express phenotypical variability of Anderson-Fabry disease in subjects with the same genetic mutation in alpha galactosidase A gene, are reported. PMID: 25281798
  43. Case Report: immunohistologically detected synaptopodin upregulation in foamy podocytes in Fabry disease due to novel alpha-galactosidase A mutation. PMID: 25295576
  44. These data confirmed that the specific approach can effectively contribute to the identification of pathological mutations in GLA. PMID: 25382311
  45. The novel mutation p.M187R/g7219 T>G is associated with a particularly malignant cardiac phenotype in males and females over 40 years. PMID: 24679964
  46. OC follows a gene duplication strategy while MGP variability was obtained mostly by the use of multiple promoters and alternative splicing, leading to proteins with additional functional characteristics and alternative gene regulatory pathways. [review] PMID: 25068814
  47. It is clear that a certain intronic haplotype in males with cryptogenic stroke is associated with reduced GLA expression and function. PMID: 25101867
  48. GLA p.E66Q mutation is a genetic risk factor for cerebral small-vessel occlusion in elderly Japanese PMID: 23724928
  49. residues important for expression of the GLA activity PMID: 24386359
  50. A Fabry disease patient and his daughter had the mutation c.493 G > C in the 3d exon of the GLA gene. D165H substitution affects protein folding. This highly conserved AA may be a key amino acid for enzyme functionality. PMID: 24398019

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Involvement in disease
Fabry disease (FD)
Subcellular Location
Lysosome.
Protein Families
Glycosyl hydrolase 27 family
Database Links

HGNC: 4296

OMIM: 300644

KEGG: hsa:2717

STRING: 9606.ENSP00000218516

UniGene: Hs.69089

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