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Article

Functional difference of the SOX10 mutant proteins responsible for the phenotypic variability in auditory-pigmentary disorders.

Journal of biochemistry - 1 Oct 2006

Yokoyama Satoru, Takeda Kazuhisa, Shibahara Shigeki

Abstract excerpt

Waardenburg syndrome (WS) is an inherited disorder, characterized by auditory-pigmentary abnormalities. SOX10 transcription factor and endothelin receptor type B (EDNRB) are responsible for WS type 4 (WS4), which also exhibits megacolon, while microphthalmia-associated transcription factor (MITF) is responsible for WS2, which is not associated with megacolon. Here, we investigated the functions of SOX10 mutant...

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Source

Identifiers

PMID: 16921166
DOI: 10.1093/jb/mvj177

Genes

SOX10
EDNRB
MITF

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Functional difference of the SOX10 mutant proteins responsible for the phenotypic variability in auditory-pigmentary disorders.PMID 16921166Read ↗

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