ABLIM3

Chr 5

actin binding LIM protein family member 3

Also known as: HMFN1661

NCBI Gene: 22885 ENSG00000173210 UniProt: O94929

The encoded protein functions as a scaffold protein that binds actin filaments and may stimulate ABRA-dependent transcriptional activity at adherens junctions. Mutations cause autosomal recessive retinal dystrophy with early childhood onset. This gene is highly constrained against loss-of-function variants in the general population.

ResearchSummary from RefSeq, UniProt

This gene encodes a member of the actin-binding LIM (abLIM) family of proteins. These proteins are characterized by an N-terminal LIM domain and a C-terminal dematin-like domain. The encoded protein interacts with actin filaments and may be a component of adherens junctions in several cell types. A variant of this gene may be associated with pain sensitivity in male human patients. [provided by RefSeq, Sep 2016]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.59

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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