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Article

A heterozygous c-Maf transactivation domain mutation causes congenital cataract and enhances target gene activation.

Human molecular genetics - 1 May 2007

Perveen R, Favor J, Jamieson R V, Ray D W, Black G C M

Abstract excerpt

MAF, one of a family of large Maf bZIP transcription factors, is mutated in human developmental ocular disorders that include congenital cataract, microcornea, coloboma and anterior segment dysgenesis. Expressed early in the developing lens vesicle, it is central to regulation of lens crystallin gene expression. We report a semi-dominant mouse c-Maf mutation recovered after ENU mutatgenesis which results in the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17374726
DOI: 10.1093/hmg/ddm048

Genes

NRL
MAF

Variants

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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