GTPBP4

Chr 10

GTP binding protein 4

Also known as: CRFG, NGB, NOG1

NCBI Gene: 23560 ENSG00000107937 UniProt: Q9BZE4

This protein functions as a GTPase involved in 60S ribosomal subunit biogenesis and acts as a TP53 repressor to prevent cell cycle arrest. Mutations cause autosomal recessive intellectual disability with microcephaly and growth retardation. The gene is highly constrained against loss-of-function variants (pLI ~1.0, LOEUF 0.08), indicating intolerance to haploinsufficiency in the general population.

ResearchSummary from RefSeq, UniProt

GTP-binding proteins are GTPases and function as molecular switches that can flip between two states: active, when GTP is bound, and inactive, when GDP is bound. 'Active' in this context usually means that the molecule acts as a signal to trigger other events in the cell. When an extracellular ligand binds to a G-protein-linked receptor, the receptor changes its conformation and switches on the trimeric G proteins that associate with it by causing them to eject their GDP and replace it with GTP. The switch is turned off when the G protein hydrolyzes its own bound GTP, converting it back to GDP. But before that occurs, the active protein has an opportunity to diffuse away from the receptor and deliver its message for a prolonged period to its downstream target. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.08

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

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