Function
Transcription factor that regulates the expression of genes with essential roles in cell differentiation, proliferation and survival. Binds to M-boxes (5'-TCATGTG-3') and symmetrical DNA sequences (E-boxes) (5'-CACGTG-3') found in the promoters of target genes, such as BCL2 and tyrosinase (TYR). Plays an important role in melanocyte development by regulating the expression of tyrosinase (TYR) and tyrosinase-related protein 1 (TYRP1). Plays a critical role in the differentiation of various cell types, such as neural crest-derived melanocytes, mast cells, osteoclasts and optic cup-derived retinal pigment epithelium.
Involvement in disease
Waardenburg syndrome 2A (WS2A); Waardenburg syndrome 2, with ocular albinism, autosomal recessive (WS2-OA); Tietz albinism-deafness syndrome (TADS); Melanoma, cutaneous malignant 8 (CMM8); Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness (COMMAD)
Tissue Specificity
Expressed in melanocytes (at protein level).; [Isoform A2]: Expressed in the retinal pigment epithelium, brain, and placenta. Expressed in the kidney.; [Isoform C2]: Expressed in the kidney and retinal pigment epithelium.; [Isoform H1]: Expressed in the k