NECAB1

Chr 8

N-terminal EF-hand calcium binding protein 1

Also known as: EFCAB1, EFCBP1, STIP-1

NCBI Gene: 64168 ENSG00000123119 UniProt: Q8N987 OMIM: 621427

The NECAB1 protein enables identical protein binding and is predicted to regulate amyloid precursor protein biosynthetic processes. Mutations cause autosomal recessive developmental and epileptic encephalopathy with onset in infancy, characterized by severe intellectual disability, refractory seizures, and progressive microcephaly. The gene shows moderate constraint against loss-of-function variants, consistent with recessive inheritance where both copies must be disrupted to cause disease.

OMIM ResearchSummary from RefSeq

Enables identical protein binding activity. Predicted to be involved in regulation of amyloid precursor protein biosynthetic process. Predicted to act upstream of or within blastocyst hatching. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Jun 2026]

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)

—

P/LP submissions

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P/LP missense

0.58

LOEUF

Multiple*

Mechanism· predicted