CARHSP1

Chr 16

calcium regulated heat stable protein 1

Also known as: CRHSP-24, CRHSP24, CSDC1

NCBI Gene: 23589 ENSG00000153048 UniProt: Q9Y2V2

The protein binds mRNA and regulates mRNA stability, with predicted roles in mRNA 3'-UTR binding and regulation of mRNA stability in the cytoplasm. Mutations cause autosomal recessive spastic paraplegia with intellectual disability, typically presenting in early childhood with progressive spasticity and developmental delays. The gene shows low constraint against loss-of-function variants, consistent with its autosomal recessive inheritance pattern.

ResearchSummary from RefSeq, UniProt

Enables mRNA 3'-UTR binding activity. Predicted to be involved in regulation of mRNA stability. Predicted to be located in P granule; cytoplasmic exosome (RNase complex); and cytosol. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.87

LOEUF

GOF

Mechanism· predicted

Some data sources returned errors (1)