Symbol: Name: ID: |
SCNN1A sodium channel, nonvoltage-gated 1 alpha GFS:522 |
Gene name: | SCNN1A |
Chromosome: | 12p13 |
Previous Symbols: | SCNN1 |
Previous Names: | |
Aliases: | ENaCalpha |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:101782 | Rat Genome Database ID: | RGD:3639 |
HGNC ID: | HGNC:10599 | RefSeq IDs: | NM_001038 |
Entrez Gene ID: | 6337 | Ensembl Gene ID: | ENSG00000111319 |
VEGA IDs: | UniProt ID: | P37088 | |
UCSC ID: | uc001qnw.2 | OMIM ID: | 600228 |
Pubmed: | PMID7896277 | ||
CCDS IDs: | CCDSCCDS8543.1 |
Nonvoltage-gated, amiloride-sensitive, sodium channels control fluid and electrolyte transport across epithelia in many organs. These channels are heteromeric complexes consisting of 3 subunits: alpha, beta, and gamma. This gene encodes the alpha subunit, and mutations in this gene have been associated with pseudohypoaldosteronism type 1 (PHA1), a rare salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq].
Sodium permeable non-voltage-sensitive ion channel inhibited by the diuretic amiloride. Mediates the electrodiffusion of the luminal sodium (and water, which follows osmotically) through the apical membrane of epithelial cells. Controls the reabsorption of sodium in kidney, colon, lung and sweat glands. Also plays a role in taste perception
Products for SCNN1A gene
Catalog | Product Name | Application | Company |
GFS:E00522 | sodium channel, nonvoltage-gated 1 alpha; ELISA kit | ELISA | n/a |
GFS:A00522 | sodium channel, nonvoltage-gated 1 alpha; Anti | ANTIBODIES | n/a |
GFS:P00522 | sodium channel, nonvoltage-gated 1 alpha; Protien | Protien | n/a |