GTPBP1

Chr 22

GTP binding protein 1

Also known as: GP-1, GP1, HSPC018, NEDFET1

NCBI Gene: 9567 ENSG00000100226 UniProt: O00178

GTPBP1 encodes a GTPase that delivers aminoacyl-tRNAs to ribosomes during protein synthesis and promotes degradation of faulty mRNAs through RNA quality control mechanisms. Autosomal recessive mutations cause neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis. The gene is highly constrained against loss-of-function variants, indicating that functional GTPBP1 protein is essential for normal cellular processes.

ResearchSummary from RefSeq, OMIM, UniProt

This gene is upregulated by interferon-gamma and encodes a protein that is a member of the AGP11/GTPBP1 family of GTP-binding proteins. A structurally similar protein has been found in mouse, where disruption of the gene for that protein had no observable phenotype. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtNeurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (2)

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