|Tested Species reactivity||Human|
|Host / Isotype||Rabbit|
|Immunogen||A synthetic peptide from the extracellular domain of human amiloride sensitive sodium channel subunit alpha|
|Storage buffer||whole serum|
|Storage conditions||Store at 4°C short term. For long term storage, store at -20°C, avoiding freeze/thaw cycles.|
SCNN1 is highly expressed in kidney and lung tissues, detected at intermediate levels in pancreas and liver, and at low levels in heart and placenta.
Isoform 1 and isoform 2 are predominate in all tissues.
Expression of isoform 3, isoform 4 and isoform 5 are very low or not detectable, except in lung and heart tissues.
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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: alpha ENaC-2; Alpha-ENaC; Alpha-NaCH; amiloride-sensitive epithelial sodium channel alpha subunit; Amiloride-sensitive sodium channel subunit alpha; amiloride-sensitive sodium channel subunit alpha 2; ENaCalpha; Epithelial a(+) channel subunit alpha; Epithelial Na(+) channel subunit alpha; FLJ21883; nasal epithelial sodium channel alpha subunit; Nonvoltage-gated sodium channel 1 subunit alpha; SCNEA; SCNN1; sodium channel, non voltage gated 1 alpha subunit; sodium channel, non-voltage-gated 1 alpha subunit; sodium channel, nonvoltage-gated 1 alpha
Gene Aliases: BESC2; ENaCa; ENaCalpha; SCNEA; SCNN1; SCNN1A
UniProt ID: (Human) P37088
Entrez Gene ID: (Human) 6337
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