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Article

Ser298 of MITF, a mutation site in Waardenburg syndrome type 2, is a phosphorylation site with functional significance.

Human molecular genetics - 1 Jan 2000

Takeda K, Takemoto C, Kobayashi I, Watanabe A, Nobukuni Y, Fisher D E, Tachibana M

Abstract excerpt

MITF (microphthalmia-associated transcription factor) is a basic-helix-loop-helix-leucine zipper (bHLHZip) factor which regulates expression of tyrosinase and other melanocytic genes via a CATGTG promoter sequence, and is involved in melanocyte differentiation. Mutations of MITF in mice or humans with Waardenburg syndrome type 2 (WS2) often severely disrupt the bHLHZip domain, suggesting the importance of this...

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Source

Identifiers

PMID: 10587587
DOI: 10.1093/hmg/9.1.125

Genes

MITF

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Click a neighbor to travelStep 1 · 12 closest

Ser298 of MITF, a mutation site in Waardenburg syndrome type 2, is a phosphorylation site with functional significance.PMID 10587587Read ↗

MITF mutations associated with pigment deficiency syndromes and melanoma have different effects on protein function.Semantic proximity Read ↗

Novel mechanisms of MITF regulation and melanoma predisposition identified in a mouse suppressor screenSemantic proximity Read ↗

Functional analysis of a nonstop mutation in MITF gene identified in a patient with Waardenburg syndrome type 2.Semantic proximity Read ↗

[Mutation screening of MITF gene in patients with Waardenburg syndrome type 2].Semantic proximity Read ↗

Evidence to suggest that expression of MITF induces melanocyte differentiation and haploinsufficiency of MITF causes Waardenburg syndrome type 2A.Semantic proximity Read ↗

Functional analysis of MITF gene mutations associated with Waardenburg syndrome type 2.Semantic proximity Read ↗

Melanocytes and the microphthalmia transcription factor network.Semantic proximity Read ↗

Novel mechanisms of MITF regulation identified in a mouse suppressor screen.Semantic proximity Read ↗

MITF: master regulator of melanocyte development and melanoma oncogene.Semantic proximity Read ↗

TFAP2 paralogs regulate melanocyte differentiation in parallel with MITF.Semantic proximity Read ↗

Modeling of pigmentation disorders associated with MITF mutation in Waardenburg syndrome revealed an impaired melanogenesis pathway in iPS-derived melanocytes.Semantic proximity Read ↗

Wnt signaling pathway involvement in genotypic and phenotypic variations in Waardenburg syndrome type 2 with MITF mutations.Semantic proximity Read ↗

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