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Gene : SCNN1A Homo sapiens

Name  ? sodium channel epithelial 1 alpha subunit Cytological Location  12p13.31
Brief Description  sodium channel epithelial 1 alpha subunit
description  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]
  • synonyms:
  • SCNN1A,
  • uc001qnx.4,
  • HGNC:10599,
  • OTTHUMG00000168268,
  • sodium channel, nonvoltage-gated 1 alpha,
  • ENaCa,
  • SCNN1,
  • SCNN1,
  • ENaCalpha,
  • Z92978,
  • BESC2,
  • NM_001038,
  • ENaCalpha,
  • SCNEA,
  • amiloride-sensitive sodium channel subunit alpha,
  • sodium channel, non voltage gated 1 alpha subunit,
  • LIDLS3,
  • sodium channel, non-voltage-gated 1 alpha,
  • sodium channel, non-voltage-gated 1 alpha subunit
  • identifiers:
  • 6337,
  • ENSG00000111319,
  • SCNN1A

Genome feature

Region: gene ? Length: 30515  
Location: 12:6346843-6377357 reverse strand Cyto location: 12p13.31


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Disease

3 Diseases

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28 SN Ps

5 Cross References

20 Data Sets

26 Homologues

0 Located Features

90 Rna Seq Results