LARP4B

Chr 10

La ribonucleoprotein 4B

Also known as: KIAA0217, LARP5

NCBI Gene: 23185 ENSG00000107929 UniProt: Q92615

This gene encodes a cytoplasmic protein that stimulates mRNA translation through its La motif and RNA recognition motifs. Mutations cause autosomal recessive intellectual disability with developmental delay and microcephaly, typically presenting in early childhood. LARP4B is highly constrained against loss-of-function variants, indicating that functional copies are critical for normal neurodevelopment.

ResearchSummary from RefSeq, UniProt

This gene encodes a member of an evolutionarily conserved protein family implicated in RNA metabolism and translation. Members of this family are characterized by the presence of an La motif, which is often located adjacent to one or more RNA recognition motifs (RRM). Together, the two motifs constitute the functional region of the protein and enable its interaction with the RNA substrate. This protein family is divided into five sub-families: the genuine La proteins and four La-related protein (LARP) sub-families. The protein encoded by this gene belongs to LARP sub-family 4. It is a cytoplasmic protein that may play a stimulatory role in translation. [provided by RefSeq, Oct 2012]

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)

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P/LP submissions

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P/LP missense

0.16

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

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