" /> MITF wt Allele - CISMeF





Preferred Label : MITF wt Allele;

NCIt synonyms : MI; MITF-A; WS2A; Microphthalmia-Associated Transcription Factor Gene; WS2; Waardenburg Syndrome, Type 2A Gene; CMM8; Homolog of Mouse Microphthalmia Gene; Microphthalmia, Mouse, Homolog of Gene; Melanocyte Inducing Transcription Factor wt Allele; Melanogenesis Associated Transcription Factor Gene; COMMAD; BHLHE32;

NCIt definition : Human MITF wild-type allele is located within 3p14.2-p14.1 and is approximately 229 kb in length. This allele, which encodes microphthalmia-associated transcription factor protein, plays a role in both the differentiation of various cell types and the development of melanocytes in the retinal pigment epithelium. Deletion mutations in this gene are associated with both Waardenburg syndrome type IIA and Tietz syndrome. Elevated expression of this gene has been found in chemotherapy-resistant melanomas.;

NCIt note : The MITF gene product regulates the transcription of the melanogenic enzyme genes, including TYR and TYRP1. This gene encodes ten alternatively spliced isoforms that differ in their cellular expression. For efficient DNA binding, the gene product requires either homodimerization or formation of a heterodimer with another bHLH protein.;

GenBank Accession Number : NM_198178;

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01/05/2025


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