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 . Mutant MITF … Other pathogenic variants in the MITF gene … 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. In this study, the degeneration of vestibular hair cells was found in pigs with MITF … LINCS L1000 … Also known as MI, WS2, CMM8, WS2A, bHLHe32 (Entrez Gene: MITF microphthalmia-associated transcription factor) Pathophysiology Plays key role in transcription regulation of … More information related to gene MITF. MITF genomic organization The human MITF gene… 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 … MITF consists of at least five isoforms, MITF-A, MITF-B, MITF-C, MITF … 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 . 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. Klijn et al., Nat. Heterozygous mutations in the this gene cause auditory-pigmentary syndromes, such as Waardenburg syndrome type 2 and Tietz syndrome. The gene view histogram is a graphical view of mutations across MITF. Transcription factor that regulates the expression of genes with essential roles in cell differentiation, proliferation and survival. Results. The MITF gene provides instructions for making a protein called melanocyte inducing transcription factor… [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). Hetero zygous mutations in the MITF gene cause auditory–pigmentary syndromes. Restrict the view to a region of the gene … 2005; Hoek and Goding 2010), MITF has emerged asakey factor importantfornotonly developmentalbiol-ogy and evolution but also oncology. Biotechnol., 2015 Cell Line Gene Mutation Profiles dataset. 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