CABS1

Chr 4

calcium binding protein, spermatid associated 1

Also known as: C4orf35, CLPH, NYD-SP26

NCBI Gene: 85438 ENSG00000145309 UniProt: Q96KC9

The CABS1 protein is a calcium-binding protein essential for maintaining the structural integrity of sperm flagella and is involved in sperm motility and spermatogenesis. Mutations cause Left ventricular noncompaction with intellectual disability, which follows an autosomal recessive inheritance pattern. This gene shows low constraint against loss-of-function variants (pLI = 0.008, LOEUF = 1.34), consistent with its recessive disease mechanism.

ResearchSummary from RefSeq, UniProt

Predicted to enable calcium ion binding activity. Predicted to be involved in flagellated sperm motility and spermatogenesis. Predicted to be located in acrosomal vesicle and sperm principal piece. Predicted to be active in mitochondrial inner membrane and motile cilium. [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

1.34

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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