CSMD1

Chr 8

CUB and Sushi multiple domains 1

Also known as: PPP1R24

NCBI Gene: 64478 ENSG00000183117 UniProt: Q96PZ7 OMIM: 608397

CSMD1 encodes a membrane protein that functions as a potential tumor suppressor in squamous cell carcinomas and is predicted to regulate learning, memory, and reproductive development processes. Mutations cause autosomal dominant intellectual disability and developmental delay, often with additional neurodevelopmental features. This gene is highly constrained against loss-of-function variants, indicating that such mutations are likely to be pathogenic when they occur.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to act upstream of or within several processes, including learning or memory; mammary gland branching involved in pregnancy; and reproductive structure development. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Jul 2025]

OMIM 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

0.21

LOEUF· LoF intol.

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Mechanism