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SCNN1A

Anti-SCNN1A Recombinant Antibody Products

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For Research Use Only. Not For Clinical Use.


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, Apr 2009]
Protein class

Disease related genes, FDA approved drug targets, Human disease related genes, Transporters

Predicted location

Membrane

Single cell type specificity

Cell type enhanced (Distal enterocytes, Glandular and luminal cells, Intestinal goblet cells, Collecting duct cells)

Immune cell specificity

Immune cell enhanced (neutrophil)

Cell line specificity

Cell line enhanced (CAPAN-2, HBEC3-KT, hTCEpi, RPTEC TERT1, RT4, SK-BR-3)

Interaction

Heterotrimer containing an alpha/SCNN1A, a beta/SCNN1B and a gamma/SCNN1G subunit. An additional delta/SCNN1D subunit exists only in some organisms and can replace the alpha/SCNN1A subunit to form an alternative channel with specific properties (By similarity). Interacts with NEDD4 (via WW domains) (PubMed:11244092, PubMed:11696533, PubMed:12167593, PubMed:23665454). Interacts with NEDD4L (via WW domains) (PubMed:11244092, PubMed:11696533). Interacts with WWP1 (via WW domains) (PubMed:9169421). Interacts with WWP2 (via WW domains) (PubMed:12167593, PubMed:9169421). Interacts with the full-length immature form of PCSK9 (pro-PCSK9) (PubMed:22493497).

Molecular function

Ion channel, Sodium channel

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