ACTL7A Chromosome 9
Actin like 7A
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What This Gene Does
The protein encoded by this gene is a member of a family of actin-related proteins (ARPs) which share significant amino acid sequence identity to conventional actins. Both actins and ARPs have an actin fold, which is an ATP-binding cleft, as a common feature. The ARPs are involved in diverse cellular processes, including vesicular transport, spindle orientation, nuclear migration and chromatin remodeling. This gene (ACTL7A), and related gene, ACTL7B, are intronless, and are located approximately 4 kb apart in a head-to-head orientation within the familial dysautonomia candidate region on 9q31. Based on mutational analysis of the ACTL7A gene in patients with this disorder, it was concluded that it is unlikely to be involved in the pathogenesis of dysautonomia. The ACTL7A gene is expressed in a wide variety of adult tissues, however, its exact function is not known. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Actin related proteins
Locus Type
gene with protein product
Location
9q31.3
Ensembl
ENSG00000187003
Associated Conditions (2)
Spermatogenic failure 86
Male infertility with normal semen parameters
Key Variants
RS2537830634
Pathogenic
Spermatogenic failure 86, Spermatogenic failure 86
Health Risk
RS2537831762
Pathogenic
Spermatogenic failure 86, Spermatogenic failure 86
Health Risk
RS371671871
Pathogenic
Spermatogenic failure 86, Spermatogenic failure 86
Health Risk
RS745719906
Pathogenic
Male infertility with normal semen parameters, Male infertility with normal semen parameters
Health Risk
RS755704105
Pathogenic
Spermatogenic failure 86, Spermatogenic failure 86
Health Risk
RS779515458
Pathogenic
Spermatogenic failure 86, Spermatogenic failure 86
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2537830634 | Health Risk | Pathogenic | Spermatogenic failure 86, Spermatogenic failure 86 |
| RS2537831762 | Health Risk | Pathogenic | Spermatogenic failure 86, Spermatogenic failure 86 |
| RS371671871 | Health Risk | Pathogenic | Spermatogenic failure 86, Spermatogenic failure 86 |
| RS745719906 | Health Risk | Pathogenic | Male infertility with normal semen parameters, Male infertility with normal semen parameters |
| RS755704105 | Health Risk | Pathogenic | Spermatogenic failure 86, Spermatogenic failure 86 |
| RS779515458 | Health Risk | Pathogenic | Spermatogenic failure 86, Spermatogenic failure 86 |