U.S. flag

An official website of the United States government

GTR Home > Genes

KCNA5 potassium voltage-gated channel subfamily A member 5

Gene ID: 3741, updated on 28-Oct-2024
Gene type: protein coding
Also known as: HK2; HCK1; PCN1; ATFB7; HPCN1; KV1.5

Summary

Potassium channels represent the most complex class of voltage-gated ino channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. It belongs to the delayed rectifier class, the function of which could restore the resting membrane potential of beta cells after depolarization and thereby contribute to the regulation of insulin secretion. This gene is intronless, and the gene is clustered with genes KCNA1 and KCNA6 on chromosome 12. Defects in this gene are a cause of familial atrial fibrillation type 7 (ATFB7). [provided by RefSeq, May 2012]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Atrial fibrillation, familial, 7
MedGen: C2677106OMIM: 612240GeneReviews: Not available
See labs

Genomic context

Location:
12p13.32
Sequence:
Chromosome: 12; NC_000012.12 (5043879..5046788)
Total number of exons:
1

Links

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.