SLC9A1 Chromosome 1
Solute carrier family 9 member A1
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What This Gene Does
This gene encodes a Na+/H+ antiporter that is a member of the solute carrier family 9. The encoded protein is a plasma membrane transporter that is expressed in the kidney and intestine. This protein plays a central role in regulating pH homeostasis, cell migration and cell volume. This protein may also be involved in tumor growth. [provided by RefSeq, Sep 2011]
Gene Info
Gene Group
"Protein phosphatase 1 regulatory subunits|Solute carrier family 9"
Locus Type
gene with protein product
Location
1p36.11
Ensembl
ENSG00000090020
Associated Conditions (2)
Lichtenstein-Knorr syndrome
Inborn genetic diseases
Key Variants
RS141715004
Conflicting classifications of pathogenicity
Health Risk
RS144261466
Conflicting classifications of pathogenicity
Health Risk
RS2083146343
Conflicting classifications of pathogenicity
Lichtenstein-Knorr syndrome, Lichtenstein-Knorr syndrome
Health Risk
RS371465891
Conflicting classifications of pathogenicity
Health Risk
RS1221107969
Likely pathogenic
Lichtenstein-Knorr syndrome, Lichtenstein-Knorr syndrome
Health Risk
RS1553175089
Likely pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS786204831
Likely pathogenic
Lichtenstein-Knorr syndrome, Lichtenstein-Knorr syndrome
Health Risk
RS2083214834
Pathogenic
Lichtenstein-Knorr syndrome, Lichtenstein-Knorr syndrome
Health Risk
RS2523152103
Pathogenic
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS141715004 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS144261466 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2083146343 | Health Risk | Conflicting classifications of pathogenicity | Lichtenstein-Knorr syndrome, Lichtenstein-Knorr syndrome |
| RS371465891 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1221107969 | Health Risk | Likely pathogenic | Lichtenstein-Knorr syndrome, Lichtenstein-Knorr syndrome |
| RS1553175089 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS786204831 | Health Risk | Likely pathogenic | Lichtenstein-Knorr syndrome, Lichtenstein-Knorr syndrome |
| RS2083214834 | Health Risk | Pathogenic | Lichtenstein-Knorr syndrome, Lichtenstein-Knorr syndrome |
| RS2523152103 | Health Risk | Pathogenic | — |