MITF consists of at least five isoforms, MITF-A, MITF-B, MITF-C, MITF … [provided by RefSeq, Jul 2008]. Mutations in the microphthalmia-associated transcription factor (Mitf) gene can cause retinal pigment epithelium (RPE) and retinal dysfunction and degeneration. Mutations of the MITF gene are associated with Waardenburg syndrome type 2 (WS2) (8, 9) and albinism–deafness (Tietz) syndrome . The gene view histogram is a graphical view of mutations across MITF. MITF-M, a common gene mutation causes type WS which affect the development of the intermediate cell of SV, was then identified for animal modeling. 2005; Hoek and Goding 2010), MITF has emerged asakey factor importantfornotonly developmentalbiol-ogy and evolution but also oncology. Alternatively spliced transcript variants encoding different isoforms have been identified. mutations in melanoma cells showing correlations be-tween MITF activity and tumor aggressivity (Garraway et al. Binds to M-boxes (5'-TCATGTG-3') and symmetrical DNA … Microphthalmia-associated transcription factor (MITF) regulates the differentiation and development of melanocytes and retinal pigment epithelium and is also responsible for pigment cell-specific transcription of the melanogenesis enzyme genes. MITF genomic organization The human MITF gene… [provided by RefSeq, Aug 2017] NCBI Gene. Biotechnol., 2015 Cell Line Gene Mutation Profiles cell lines with MITF gene mutations from the Klijn et al., Nat. Restrict the view to a region of the gene … Also known as MI, WS2, CMM8, WS2A, bHLHe32 (Entrez Gene: MITF microphthalmia-associated transcription factor) Pathophysiology Plays key role in transcription regulation of … Other pathogenic variants in the MITF gene … The c.952G>A, p.Glu318Lys variant in the MITF gene is associated with autosomal dominant susceptibility to cutaneous malignant melanoma (MedGen UID: 463554). The MITF gene provides instructions for making a protein called melanocyte inducing transcription factor… We examined retinal and … More information related to gene MITF. Heterozygous mutations in the this gene cause auditory-pigmentary syndromes, such as Waardenburg syndrome type 2 and Tietz syndrome. These mutations are displayed at the amino acid level across the full length of the gene by default. Heterozygous mutations in the this gene cause auditory-pigmentary syndromes, such as Waardenburg syndrome type 2 and Tietz syndrome. Mutant MITF … MITF is thought to regulate expression of tyrosinase and other melanocytic genes via a CATGTG promoter element (3– 6), and is involved in melanocyte differentiation . Klijn et al., Nat. Hetero zygous mutations in the MITF gene cause auditory–pigmentary syndromes. Biotechnol., 2015 Cell Line Gene Mutation Profiles dataset. 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