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waardenburg syndrome/ocular albinism, digenic
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MITF
A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma
The microphthalmia transcription factor reulates expression of the tartrate-resistant acid phosphatase gene during terminal differentiation of osteoclasts
Novel MITF targets identified using a two-step DNA microarray strategy
BCL2 regulation by the melanocyte master regulator MITF modulates lineage survival and melanoma cell viability
VMD2 promoter requires two proximal E-box sites for its activity in vivo and is regulated by the MITF-TFE family
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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