KLHL17 Chromosome 1
Kelch like family member 17
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What This Gene Does
The protein encoded by this gene is expressed in neurons of most regions of the brain. It contains an N-terminal BTB domain, which mediates dimerization of the protein, and a C-terminal Kelch domain, which mediates binding to F-actin. This protein may play a key role in the regulation of actin-based neuronal function. [provided by RefSeq, Aug 2010]
Gene Info
Gene Group
"Kelch like|BTB domain containing"
Locus Type
gene with protein product
Location
1p36.33
Ensembl
ENSG00000187961
Associated Conditions (2)
Ovarian serous cystadenocarcinoma
Esophageal atresia/tracheoesophageal fistula
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138690517 | Health Risk | Conflicting classifications of pathogenicity | Ovarian serous cystadenocarcinoma, Ovarian serous cystadenocarcinoma |
| RS756054473 | Health Risk | Likely pathogenic | Esophageal atresia/tracheoesophageal fistula, Esophageal atresia/tracheoesophageal fistula |