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AKAP3

Synonyms
AKAP 110, AKAP110, CT82, FSP95, HEL159, PRKA3, SOB1
External resources
Summary
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.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
2,608
Likely benign
313
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on AKAP3 gene.

Phenotype class
Patients in 3billion (%)

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