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Article

Loss-of-function mutation in RUSC2 causes intellectual disability and secondary microcephaly.

Developmental medicine and child neurology - 1 Dec 2016

Alwadei Ali H, Benini Ruba, Mahmoud Adel, Alasmari Ali, Kamsteeg Erik-Jan, Alfadhel Majid

Abstract excerpt

Inherited aberrancies in intracellular vesicular transport are associated with a variety of neurological and non-neurological diseases. RUSC2 is a gene found on chromosome 9p13.3 that codes for iporin, a ubiquitous protein with high expression in the brain that interacts with Rab proteins (GTPases implicated in intracellular protein trafficking). Although mutations in Rab proteins have been described as causing...

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Identifiers

PMID: 27612186
DOI: 10.1111/dmcn.13250

Genes

RUSC2

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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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