The gene view histogram is a graphical view of mutations across MITF. Results. Other pathogenic variants in the MITF gene … mutations in melanoma cells showing correlations be-tween MITF activity and tumor aggressivity (Garraway et al. MITF consists of at least five isoforms, MITF-A, MITF-B, MITF-C, MITF … Binds to M-boxes (5'-TCATGTG-3') and symmetrical DNA … [provided by RefSeq, Aug 2017] NCBI Gene. These mutations are displayed at the amino acid level across the full length of the gene by default. MITF genomic organization The human MITF gene… Mutant MITF … Transcription factor that regulates the expression of genes with essential roles in cell differentiation, proliferation and survival. 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. Restrict the view to a region of the gene … We examined retinal and … Mutations in the microphthalmia-associated transcription factor (Mitf) gene can cause retinal pigment epithelium (RPE) and retinal dysfunction and degeneration. 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. Biotechnol., 2015 Cell Line Gene Mutation Profiles dataset. The MITF gene provides instructions for making a protein called melanocyte inducing transcription factor… Heterozygous mutations in the this gene cause auditory-pigmentary syndromes, such as Waardenburg syndrome type 2 and Tietz syndrome. LINCS L1000 … Alternatively spliced transcript variants encoding different isoforms have been identified. Biotechnol., 2015 Cell Line Gene Mutation Profiles cell lines with MITF gene mutations from the Klijn et al., Nat. More information related to gene MITF. [provided by RefSeq, Jul 2008]. The c.952G>A, p.Glu318Lys variant in the MITF gene is associated with autosomal dominant susceptibility to cutaneous malignant melanoma (MedGen UID: 463554). 2005; Hoek and Goding 2010), MITF has emerged asakey factor importantfornotonly developmentalbiol-ogy and evolution but also oncology. 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. Mutations of the MITF gene are associated with Waardenburg syndrome type 2 (WS2) (8, 9) and albinism–deafness (Tietz) syndrome . Also known as MI, WS2, CMM8, WS2A, bHLHe32 (Entrez Gene: MITF microphthalmia-associated transcription factor) Pathophysiology Plays key role in transcription regulation of … Hetero zygous mutations in the MITF gene cause auditory–pigmentary syndromes. 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