U.S. flag

An official website of the United States government

GTR Home > Genes

ANO6 anoctamin 6

Gene ID: 196527, updated on 11-Apr-2024
Gene type: protein coding
Also known as: SCTS; BDPLT7; TMEM16F

Summary

This gene encodes a multi-pass transmembrane protein that belongs to the anoctamin family. This protein is an essential component for the calcium-dependent exposure of phosphatidylserine on the cell surface. The scrambling of phospholipid occurs in various biological systems, such as when blood platelets are activated, they expose phosphatidylserine to trigger the clotting system. Mutations in this gene are associated with Scott syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2011]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
A genome-wide association study in Han Chinese identifies new susceptibility loci for ankylosing spondylitis.
GeneReviews: Not available
SCOTT SYNDROME
MedGen: C0796149OMIM: 262890GeneReviews: Not available
See labs

Genomic context

Location:
12q12
Sequence:
Chromosome: 12; NC_000012.12 (45216095..45440404)
Total number of exons:
23

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.