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Article

Complete loss of function of the ubiquitin ligase HERC2 causes a severe neurodevelopmental phenotype.

European journal of human genetics : EJHG - 1 Jan 2016

Morice-Picard Fanny, Benard Giovanni, Rezvani Hamid R, Lasseaux Eulalie, Simon Delphine, Moutton Sébastien, Rooryck Caroline, Lacombe Didier, Baumann Clarisse, Arveiler Benoit

Abstract excerpt

The ubiquitin-proteasome pathway is involved in the pathogenesis of several neurogenetic diseases. We describe a Mauritanian patient harboring a homozygous deletion restricted to two contiguous genes HERC2 and OCA2 and presenting with severe developmental abnormalities. The deletion causes the complete loss of HERC2 protein function, an E3-ubiquitin ligase. HERC2 is known to target XPA and BRCA1 for degradation...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 27759030
DOI: 10.1038/ejhg.2016.139
PMCID: PMC5159772

Genes

HERC2
BRCA1
XPA
OCA2

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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