PIWIL1 Chromosome 12
Piwi like RNA-mediated gene silencing 1
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What This Gene Does
This gene encodes a member of the PIWI subfamily of Argonaute proteins, evolutionarily conserved proteins containing both PAZ and Piwi motifs that play important roles in stem cell self-renewal, RNA silencing, and translational regulation in diverse organisms. The encoded protein may play a role as an intrinsic regulator of the self-renewal capacity of germline and hematopoietic stem cells. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]
Gene Info
Gene Group
Piwi like RNA-mediated gene silencing family
Locus Type
gene with protein product
Location
12q24.33
Ensembl
ENSG00000125207
Associated Conditions (1)
Male infertility
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS369068461 | Health Risk | Likely pathogenic | Male infertility, Male infertility |