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waardenburg syndrome/albinism, digenic
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TYR
Polyphenol oxidases in plants and fungi: going places? A review
Tyrosinases from crustaceans form hexamers
MITF
Identification of Aim-1 as the underwhite mouse mutant and its transcriptional regulation by MITF
The gene encoding the T-box factor Tbx2 is a target for the microphthalmia-associated transcription factor in melanocytes
Transcriptional regulation of the melanoma prognostic marker melastatin (TRPM1) by MITF in melanocytes and melanoma
Signaling and transcriptional regulation in the neural crest-derived melanocyte lineage: interactions between KIT and MITF
Selective down-regulation of tyrosinase family gene TYRP1 by inhibition of the activity of melanocyte transcription factor, MITF
Cancer Gene Census
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MITF
Somatic tumors
melanoma
Tumor types germline
Cancer Syndrom
Translocation partner
Name
melanogenesis-associated transcription factor
Chromosome banding
3p14.1
Cancer molecular gen.
Dom
Mutation type
A
Other syndrome disease
Waardenburg syndrome type 2, Tietz syndrome
Definition
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Pathways
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Modal title
melanocyte development and pigmentation pathway
species not specified
one gene
Clinical Trials
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External
Clinical, Cellular, and Molecular Investigation Into Oculocutaneous Albinism