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Article

Differential effect of cataract-associated mutations in MAF on transactivation of MAF target genes.

Molecular and cellular biochemistry - 1 Nov 2014

Vanita Vanita, Guo Gao, Singh Daljit, Ott Claus-Eric, Robinson Peter N

Abstract excerpt

Three mutations in the highly conserved DNA-binding region of c-MAF (R288P, K297R, and R299S) are associated with phenotypically distinct forms of autosomal dominant congenital cataract. However, the molecular mechanisms underlying this phenotypic diversity remain unclear. In this work, we have investigated the hypothesis that differential transactivation of MAF target genes could be one factor determining the...

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Share to Amino Acid Sequence
Share to Cataract
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Eye Diseases, Hereditary

Share to Gene Expression Regulation

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Share to Promoter Regions, Genetic

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Source

Identifiers

PMID: 25064449
DOI: 10.1007/s11010-014-2150-z

Genes

MAF
CRYGA
CRYBA1

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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