AJAP1

Chr 1

adherens junctions associated protein 1

Also known as: MOT8, SHREW-1, SHREW1

NCBI Gene: 55966 ENSG00000196581 UniProt: Q9UKB5

AJAP1 encodes a protein that enables beta-catenin binding and regulates cell adhesion and migration, particularly in epithelial cell differentiation and cell-matrix interactions. Mutations cause autosomal recessive intellectual disability with microcephaly and seizures, typically presenting in early childhood. The gene is highly constrained against loss-of-function variants (pLI 0.99, LOEUF 0.19), indicating that complete protein loss is poorly tolerated.

ResearchSummary from RefSeq, UniProt

Enables beta-catenin binding activity. Involved in negative regulation of cell-matrix adhesion; negative regulation of wound healing; and regulation of polarized epithelial cell differentiation. Located in several cellular components, including adherens junction; basolateral plasma membrane; and cell-cell contact zone. [provided by Alliance of Genome Resources, Jul 2025]

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

0.19

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429