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Article

METTL23, a transcriptional partner of GABPA, is essential for human cognition.

Human molecular genetics - 1 Jul 2014

Reiff Rachel E, Ali Bassam R, Baron Byron, Yu Timothy W, Ben-Salem Salma, Coulter Michael E, Schubert Christian R, Hill R Sean, Akawi Nadia A, Al-Younes Banan, Kaya Namik, Evrony Gilad D, Al-Saffar Muna, Felie Jillian M, Partlow Jennifer N, Sunu Christine M, Schembri-Wismayer Pierre, Alkuraya Fowzan S, Meyer Brian F, Walsh Christopher A, Al-Gazali Lihadh, Mochida Ganeshwaran H

Abstract excerpt

Whereas many genes associated with intellectual disability (ID) encode synaptic proteins, transcriptional defects leading to ID are less well understood. We studied a large, consanguineous pedigree of Arab origin with seven members affected with ID and mild dysmorphic features. Homozygosity mappi...

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Source

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Identifiers

PMID: 24501276
DOI: 10.1093/hmg/ddu054
PMCID: PMC4049305

Genes

METTL23
GABPA
THPO

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24501276-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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