GDI1

Chr X

GDP dissociation inhibitor 1

Also known as: 1A, GDIL, MRX41, MRX48, OPHN2, RABGD1A, RABGDIA, XAP-4

NCBI Gene: 2664 ENSG00000203879 UniProt: P31150

GDP dissociation inhibitor 1 regulates the GDP/GTP exchange reaction of Rab proteins, which are essential for vesicular trafficking between cellular organelles. Mutations cause X-linked intellectual developmental disorder, with the gene being highly constrained against loss-of-function variants (pLI 0.99, LOEUF 0.19). The protein is expressed primarily in neural and sensory tissues and follows X-linked inheritance.

ResearchSummary from RefSeq, OMIM, UniProt

GDP dissociation inhibitors are proteins that regulate the GDP-GTP exchange reaction of members of the rab family, small GTP-binding proteins of the ras superfamily, that are involved in vesicular trafficking of molecules between cellular organelles. GDIs slow the rate of dissociation of GDP from rab proteins and release GDP from membrane-bound rabs. GDI1 is expressed primarily in neural and sensory tissues. Mutations in GDI1 have been linked to X-linked nonspecific cognitive disability. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtIntellectual developmental disorder, X-linked 41

Clinical highlights

Gene-disease validity (ClinGen)

non-syndromic X-linked intellectual disability · XLModerateconsider for supplementary testing

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.19

LOEUF· LoF intol.

LOF

Mechanism· G2P

Some data sources returned errors (1)

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