CAPZA2 Chromosome 7
Capping actin protein of muscle Z-line subunit alpha 2
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What This Gene Does
The protein encoded by this gene is a member of the F-actin capping protein alpha subunit family. It is the alpha subunit of the barbed-end actin binding protein Cap Z. By capping the barbed end of actin filaments, Cap Z regulates the growth of the actin filaments at the barbed end. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Dynactin subunits
Locus Type
gene with protein product
Location
7q31.2
Ensembl
ENSG00000198898
Associated Conditions (1)
Intellectual disability
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1791701248 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, Intellectual disability |
| RS1791701214 | Health Risk | Pathogenic | Intellectual disability, Intellectual disability |