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Article

Functional analysis of MITF gene mutations associated with Waardenburg syndrome type 2.

FEBS letters - 30 Nov 2012

Zhang Hua, Luo Hunjin, Chen Hongsheng, Mei Lingyun, He Chufeng, Jiang Lu, Li Jia-Da, Feng Yong

Abstract excerpt

MITF mutations results in an abnormal melanocyte development and lead to Waardenburg syndrome type 2 (WS2). Here, we analyzed the in vitro activities of two recently identified WS2-associated MITF mutations (p.R217I and p.T192fsX18). The R217I MITF retained partial activity, normal DNA-binding ab...

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Source

Identifiers

PMID: 23098757
DOI: 10.1016/j.febslet.2012.10.006

Genes

MITF
TYR

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23098757-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Functional analysis of MITF gene mutations associated with Waardenburg syndrome type 2.PMID 23098757Read ↗

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