SNX27 Chromosome 1
Sorting nexin 27
Upload your DNA to see your personal genotypes for variants in SNX27.
What This Gene Does
This gene encodes a member of the sorting nexin family, a diverse group of cytoplasmic and membrane-associated proteins involved in endocytosis of plasma membrane receptors and protein trafficking through these compartments. All members of this protein family contain a phosphoinositide binding domain (PX domain). A highly similar protein in mouse is responsible for the specific recruitment of an isoform of serotonin 5-hydroxytryptamine 4 receptor into early endosomes, suggesting the analogous role for the human protein. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Sorting nexins|PDZ domain containing"
Locus Type
gene with protein product
Location
1q21.3
Ensembl
ENSG00000143376
Associated Conditions (3)
Severe myoclonic epilepsy in infancy
Inborn genetic diseases
See cases
Key Variants
RS144336311
Conflicting classifications of pathogenicity
Severe myoclonic epilepsy in infancy, Inborn genetic diseases, Severe myoclonic epilepsy in infancy
Health Risk
RS373727297
Conflicting classifications of pathogenicity
Severe myoclonic epilepsy in infancy, Inborn genetic diseases, Severe myoclonic epilepsy in infancy
Health Risk
RS1670312400
Likely pathogenic
See cases, See cases
Health Risk
RS2102681464
Likely pathogenic
See cases, See cases
Health Risk
RS1346732190
Pathogenic
Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
Health Risk
RS1553266166
Pathogenic
Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
Health Risk
RS1571881557
Pathogenic
Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
Health Risk
RS1669791515
Pathogenic
Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
Health Risk
RS1669994959
Pathogenic
Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
Health Risk
RS201966711
Pathogenic
Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
Health Risk
RS2102676931
Pathogenic
Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
Health Risk
RS2102690228
Pathogenic
Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
Health Risk
All Variants (18)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS144336311 | Health Risk | Conflicting classifications of pathogenicity | Severe myoclonic epilepsy in infancy, Inborn genetic diseases, Severe myoclonic epilepsy in infancy |
| RS373727297 | Health Risk | Conflicting classifications of pathogenicity | Severe myoclonic epilepsy in infancy, Inborn genetic diseases, Severe myoclonic epilepsy in infancy |
| RS1670312400 | Health Risk | Likely pathogenic | See cases, See cases |
| RS2102681464 | Health Risk | Likely pathogenic | See cases, See cases |
| RS1346732190 | Health Risk | Pathogenic | Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy |
| RS1553266166 | Health Risk | Pathogenic | Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy |
| RS1571881557 | Health Risk | Pathogenic | Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy |
| RS1669791515 | Health Risk | Pathogenic | Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy |
| RS1669994959 | Health Risk | Pathogenic | Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy |
| RS201966711 | Health Risk | Pathogenic | Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy |
| RS2102676931 | Health Risk | Pathogenic | Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy |
| RS2102690228 | Health Risk | Pathogenic | Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy |
| RS2102724265 | Health Risk | Pathogenic | Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy |
| RS2525037609 | Health Risk | Pathogenic | Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy |
| RS2525156811 | Health Risk | Pathogenic | Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy |
| RS574654968 | Health Risk | Pathogenic | Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy |
| RS781657502 | Health Risk | Pathogenic | Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy |
| RS770358039 | Health Risk | Pathogenic/Likely pathogenic | Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy |