KCNU1 Chromosome 8
Potassium calcium-activated channel subfamily U member 1
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What This Gene Does
This gene encodes a member of the potassium channel family of proteins. The encoded voltage-gated ion channel allows the outward flow of potassium ions during plasma membrane hyperpolarization in sperm. Opening of this channel may be regulated by calcium ion levels. Homozygous knockout mice that lack the related mouse gene exhibit male sterility. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
Gene Info
Gene Group
Potassium calcium-activated channels
Locus Type
gene with protein product
Location
8p11.23
Ensembl
ENSG00000215262
Associated Conditions (1)
Spermatogenic failure 79
Key Variants
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2536049981 | Health Risk | Pathogenic | Spermatogenic failure 79, Spermatogenic failure 79 |
| RS377269265 | Health Risk | Pathogenic | Spermatogenic failure 79, Spermatogenic failure 79 |
| RS764919521 | Health Risk | Pathogenic | Spermatogenic failure 79, Spermatogenic failure 79 |