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Article

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

Human molecular genetics - 1 Nov 2013

Grill Christine, Bergsteinsdóttir Kristín, Ogmundsdóttir Margrét H, Pogenberg Vivian, Schepsky Alexander, Wilmanns Matthias, Pingault Veronique, Steingrímsson Eiríkur

Abstract excerpt

The basic-helix-loop-helix-leucine zipper (bHLHZip) protein MITF (microphthalmia-associated transcription factor) is a master regulator of melanocyte development. Mutations in the MITF have been found in patients with the dominantly inherited hypopigmentation and deafness syndromes Waardenburg syndrome type 2A (WS2A) and Tietz syndrome (TS). Additionally, both somatic and germline mutations have been found in...

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Source

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Identifiers

PMID: 23787126
DOI: 10.1093/hmg/ddt285
PMCID: PMC3888191

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.

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MITF mutations associated with pigment deficiency syndromes and melanoma have different effects on protein function.PMID 23787126Read ↗

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