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Article

15q11-13 GABAA receptor genes are normally biallelically expressed in brain yet are subject to epigenetic dysregulation in autism-spectrum disorders.

Human molecular genetics - 15 Mar 2007

Hogart Amber, Nagarajan Raman P, Patzel Katherine A, Yasui Dag H, Lasalle Janine M

Abstract excerpt

Human chromosome 15q11-13 is a complex locus containing imprinted genes as well as a cluster of three GABA(A) receptor subunit (GABR) genes-GABRB3, GABRA5 and GABRG3. Deletion or duplication of 15q11-13 GABR genes occurs in multiple human neurodevelopmental disorders including Prader-Willi syndrome (PWS), Angelman syndrome (AS) and autism. GABRB3 protein expression is also reduced in Rett syndrome (RTT), caused...

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Source

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Identifiers

PMID: 17339270
DOI: 10.1093/hmg/ddm014
PMCID: PMC1934608

Genes

GABRB3
GABRA5
GABRG3
MECP2

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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