SDK1

Chr 7

sidekick cell adhesion molecule 1

NCBI Gene: 221935 ENSG00000146555 UniProt: Q7Z5N4

This adhesion molecule promotes lamina-specific synaptic connections in the retina through homophilic interactions and is expressed in specific subsets of interneurons and retinal ganglion cells. Mutations cause autosomal recessive retinal dystrophy and microcephaly. The gene is highly constrained against loss-of-function variants, indicating that complete loss of protein function is poorly tolerated.

ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is a member of the immunoglobulin superfamily. The protein contains six immunoglobulin-like domains and thirteen fibronectin type III domains. Fibronectin type III domains are present in both extracellular and intracellular proteins and tandem repeats are known to contain binding sites for DNA, heparin and the cell surface. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]

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

—

P/LP missense

0.40

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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