9h7s

Structural highlights

Disease

MITF_HUMAN MITF-related melanoma and renal cell carcinoma predisposition syndrome;Clear cell renal carcinoma;Papillary renal cell carcinoma;Tietz syndrome;Waardenburg syndrome type 2;Ocular albinism with congenital sensorineural deafness. The disease is caused by mutations affecting the gene represented in this entry. The disease is caused by mutations affecting the gene represented in this entry. The disease is caused by mutations affecting the gene represented in this entry. Disease susceptibility is associated with variations affecting the gene represented in this entry.

Function

MITF_HUMAN Transcription factor that regulates the expression of genes with essential roles in cell differentiation, proliferation and survival. Binds to 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.^{[1] [2]}

References

1. ↑ Takeda K, Takemoto C, Kobayashi I, Watanabe A, Nobukuni Y, Fisher DE, Tachibana M. Ser298 of MITF, a mutation site in Waardenburg syndrome type 2, is a phosphorylation site with functional significance. Hum Mol Genet. 2000 Jan 1;9(1):125-32. PMID:10587587
2. ↑ Genovese G, Ghosh P, Li H, Rettino A, Sioletic S, Cittadini A, Sgambato A. The tumor suppressor HINT1 regulates MITF and beta-catenin transcriptional activity in melanoma cells. Cell Cycle. 2012 Jun 1;11(11):2206-15. doi: 10.4161/cc.20765. Epub 2012 Jun 1. PMID:22647378 doi:http://dx.doi.org/10.4161/cc.20765