CAPRIN1

Chr 11AD

cell cycle associated protein 1

Also known as: CONDCAC, GPIAP1, GPIP137, GRIP137, M11S1, NEDLAAD, RNG105, p137GPI

NCBI Gene: 4076 ENSG00000135387 UniProt: Q14444 OMIM: 601178

CAPRIN1 encodes an mRNA-binding protein that regulates mRNA transport, translation, and stability through formation of cytoplasmic ribonucleoprotein granules and stress granules, playing essential roles in neurogenesis and synaptic plasticity. Mutations cause autosomal dominant neurodegeneration with childhood-onset cerebellar ataxia and cognitive decline, or neurodevelopmental disorder with language impairment, autism, and ADHD. The gene is highly constrained against loss-of-function mutations (pLI = 0.97), reflecting its critical role in neuronal function.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

Enables several functions, including ATP binding activity; molecular condensate scaffold activity; and signaling adaptor activity. Involved in membraneless organelle assembly; positive regulation of stress granule assembly; and regulation of gene expression. Located in cell leading edge and cytosol. Is active in cytoplasm. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive declineMIM #620636

Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorderMIM #620782

Clinical highlights

Gene-disease validity (ClinGen)

neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline · ADModerateconsider for supplementary testing2 gene-disease associations curated in total

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)

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P/LP submissions

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P/LP missense

0.31

LOEUF· LoF intol.

LOF

Mechanism· G2P