AKAP3 Chromosome 12
A-kinase anchoring protein 3
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What This Gene Does
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]
Gene Info
Gene Group
A-kinase anchoring proteins
Locus Type
gene with protein product
Location
12p13.32
Ensembl
ENSG00000111254
Associated Conditions (1)
Spermatogenic failure 82
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1220814973 | Health Risk | Pathogenic | Spermatogenic failure 82, Spermatogenic failure 82 |
| RS150896332 | Health Risk | Pathogenic | Spermatogenic failure 82, Spermatogenic failure 82 |