SLC17A9 Chromosome 20
Solute carrier family 17 member 9
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What This Gene Does
This gene encodes a member of a family of transmembrane proteins that are involved in the transport of small molecules. The encoded protein participates in the vesicular uptake, storage, and secretion of adenoside triphosphate (ATP) and other nucleotides. A mutation in this gene was found in individuals with autosomal dominant disseminated superficial actinic porokeratosis-8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
Gene Info
Gene Group
Solute carrier family 17
Locus Type
gene with protein product
Location
20q13.33
Ensembl
ENSG00000101194
Associated Conditions (2)
Porokeratosis 8
disseminated superficial actinic type
Key Variants
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS606231251 | Health Risk | Pathogenic | Porokeratosis 8, disseminated superficial actinic type, Porokeratosis 8 |