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