SLC9A7 Chromosome X
Solute carrier family 9 member A7
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What This Gene Does
This gene encodes a sodium and potassium/ proton antiporter that is a member of the solute carrier family 9 protein family. The encoded protein is primarily localized to the trans-Golgi network and is involved in maintaining pH homeostasis in organelles along the secretory and endocytic pathways. This protein may enhance cell growth of certain breast tumors. This gene is part of a gene cluster on chromosome Xp11.23. A pseudogene of this gene is found on chromosome 12. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]
Gene Info
Gene Group
Solute carrier family 9
Locus Type
gene with protein product
Location
Xp11.3
Ensembl
ENSG00000065923
Associated Conditions (3)
SLC9A7-related neurodevelopmental disorder
Intellectual developmental disorder
X-linked 108
Key Variants
RS138701264
Conflicting classifications of pathogenicity
Health Risk
RS144546494
Conflicting classifications of pathogenicity
Health Risk
RS149200800
Conflicting classifications of pathogenicity
Health Risk
RS745865153
Conflicting classifications of pathogenicity
Health Risk
RS1569507511
Likely pathogenic
SLC9A7-related neurodevelopmental disorder, Intellectual developmental disorder, X-linked 108
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138701264 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS144546494 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS149200800 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS745865153 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1569507511 | Health Risk | Likely pathogenic | SLC9A7-related neurodevelopmental disorder, Intellectual developmental disorder, X-linked 108 |