KLHL10 Chromosome 17
Kelch like family member 10
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What This Gene Does
The protein encoded by this gene belongs to the kelch repeat-containing family, and contains an N-terminal BTB/POZ domain a BACK domain and six C-terminal kelch repeats. Kelch domains are thought to form a four stranded beta-sheet blade structure that can fold into a beta-propeller domain when multiple kelch repeats are found together. Mutations in this gene have been associated with oligozoospermia in some infertile males. [provided by RefSeq, Jul 2016]
Gene Info
Gene Group
"Kelch like|BTB domain containing"
Locus Type
gene with protein product
Location
17q21.2
Ensembl
ENSG00000161594
Associated Conditions (3)
Non-obstructive azoospermia
KLHL10-related disorder
Spermatogenic failure 11
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS61752339 | Health Risk | Conflicting classifications of pathogenicity | Non-obstructive azoospermia, KLHL10-related disorder, Non-obstructive azoospermia |
| RS782565913 | Health Risk | Pathogenic | Spermatogenic failure 11, Spermatogenic failure 11 |