SLC9A9 Chromosome 3
Solute carrier family 9 member A9
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What This Gene Does
This gene encodes a sodium/proton exchanger that is a member of the solute carrier 9 protein family. The encoded protein localizes the to the late recycling endosomes and may play an important role in maintaining cation homeostasis. Mutations in this gene are associated with autism susceptibility 16 and attention-deficit/hyperactivity disorder. [provided by RefSeq, Mar 2012]
Gene Info
Gene Group
Solute carrier family 9
Locus Type
gene with protein product
Location
3q24
Ensembl
ENSG00000181804
Associated Conditions (4)
Colorectal cancer
Autism
susceptibility to
16
Key Variants
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS144779737 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1933531491 | Health Risk | Pathogenic | Colorectal cancer, Colorectal cancer |
| RS121912597 | Health Risk | risk factor | Autism, susceptibility to, 16 |