DISEASES

Disease-gene associations mined from literature

Literature associating MITF and Waardenburg syndrome type 2C

MITF [ENSP00000295600]

Microphthalmia-associated transcription factor; 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; Belongs to the MiT/TFE family.

Synonyms:  MITF,  C9J845,  C9JBI8,  C9K0S7,  E9PKJ8 ...

Linkouts:  STRING  Pharos  UniProt  OMIM