SCNN1B sodium channel epithelial 1 subunit beta

Gene ID: 6338, updated on 2-Nov-2024
Gene type: protein coding
Also known as: BESC1; ENaCb; SCNEB; LIDLS1; PHA1B2; ENaCbeta; beta-ENaC; beta-NaCH

Summary

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 beta subunit, and mutations in this gene have been associated with pseudohypoaldosteronism type 1 (PHA1), and Liddle syndrome. [provided by RefSeq, Apr 2009]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Bronchiectasis with or without elevated sweat chloride 1 MedGen: C2749757OMIM: 211400GeneReviews: Not available	See labs
Liddle syndrome 1 MedGen: CN031472OMIM: 177200GeneReviews: Not available	See labs
Pseudohypoaldosteronism, type IB2, autosomal recessive MedGen: C5774255OMIM: 620125GeneReviews: Not available	See labs

Genomic context

Location:: 16p12.2

Sequence:: Chromosome: 16; NC_000016.10 (23278231..23381294)

Total number of exons:: 17

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for SCNN1B variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
sodium channel, nonvoltage-gated 1, beta (SCNN1B) @ LOVD
Variation Viewer
Related Variants

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.