LARP1B

Chr 4

La ribonucleoprotein 1B

Also known as: LARP2

NCBI Gene: 55132 ENSG00000138709 UniProt: Q659C4

This gene encodes an RNA-binding protein containing La motifs that fold into RNA recognition motifs. Mutations cause autosomal recessive intellectual disability with speech delay and dysmorphic features, typically presenting in early childhood. The gene is highly constrained against loss-of-function variants (pLI ~1.0), indicating that complete loss of protein function is likely not tolerated.

ResearchSummary from RefSeq

This gene encodes a protein containing domains found in the La related protein of Drosophila melanogaster. La motif-containing proteins are thought to be RNA-binding proteins, where the La motif and adjacent amino acids fold into an RNA recognition motif. The La motif is also found in proteins unrelated to the La protein. Alternative splicing has been observed at this locus and multiple variants, encoding distinct isoforms, are described. Additional splice variation has been identified but the full-length nature of these transcripts has not been determined. [provided by RefSeq, Jun 2013]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.69

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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