ANKRD23

Chr 2

ankyrin repeat domain 23

Also known as: DARP, MARP3

NCBI Gene: 200539 ENSG00000163126 UniProt: Q86SG2 OMIM: 610736

The protein is a nuclear transcriptional regulator that may link myofibrillar stretch-induced signaling to muscle gene expression and energy metabolism. Mutations cause autosomal recessive dilated cardiomyopathy with left ventricular noncompaction. This gene is not highly constrained against loss-of-function variants, consistent with its recessive inheritance pattern.

OMIM ResearchSummary from RefSeq, UniProt

This gene is a member of the muscle ankyrin repeat protein (MARP) family and encodes a protein with four tandem ankyrin-like repeats. The protein is localized to the nucleus, functioning as a transcriptional regulator. Expression of this protein is induced during recovery following starvation. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.88

LOEUF

Multiple*

Mechanism· predicted