CAPZA3

Chr 12

capping actin protein of muscle Z-line subunit alpha 3

Also known as: CAPPA3, Gsg3, HEL-S-86

NCBI Gene: 93661 ENSG00000177938 UniProt: Q96KX2 OMIM: 608722

The protein caps the fast-growing ends of actin filaments in a calcium-independent manner and is predominantly expressed in sperm where it contributes to sperm architecture and male fertility. Mutations cause autosomal recessive sensorineural hearing loss with onset in infancy or early childhood. The gene shows low constraint to loss-of-function variants, consistent with its autosomal recessive inheritance pattern.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes an actin capping protein, one of the F-actin capping protein alpha subunit family. The encoded protein is predominantly localized to the neck region of ejaculated sperm, other immunohistochemical signals were found in the tail and postacrosomal regions. The encoded protein may also form heterodimers of alpha and beta subunits. This protein may be important in determining sperm architecture and male fertility. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.19

LOEUF

Mechanism· predicted