AKAP3

Chr 12

A-kinase anchoring protein 3

Also known as: AKAP 110, AKAP110, CT82, FSP95, HEL159, PRKA3, SOB1, SPGF82

NCBI Gene: 10566 ENSG00000111254 UniProt: O75969

The AKAP3 protein is a structural component of the sperm fibrous sheath that anchors protein kinase A to specific cellular locations and is required for sperm flagellum formation and motility. Autosomal recessive mutations cause spermatogenic failure 82, resulting in male infertility. This gene is moderately constrained against loss-of-function variants and primarily affects the male reproductive system.

ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a member of A-kinase anchoring proteins (AKAPs), a family of functionally related proteins that target protein kinase A to discrete locations within the cell. The encoded protein is reported to participate in protein-protein interactions with the R-subunit of the protein kinase A as well as sperm-associated proteins. This protein is expressed in spermatozoa and localized to the acrosomal region of the sperm head as well as the length of the principal piece. It may function as a regulator of motility, capacitation, and the acrosome reaction. [provided by RefSeq, May 2013]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtSpermatogenic failure 82

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

0.53

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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