GTR Home > Genes

STX16 syntaxin 16

Also known as: SYN16

Summary

This gene encodes a protein that is a member of the syntaxin or t-SNARE (target-SNAP receptor) family. These proteins are found on cell membranes and serve as the targets for V-SNARES (vesicle-SNAP receptors) permitting specific synaptic vesicle docking and fusion. A microdeletion in the region of chromosome 20 where this gene is located has been associated with pseudohypoparathyroidism type Ib. Multiple transcript variants have been found for this gene. Read-through transcription also exists between this gene and the neighboring downstream aminopeptidase-like 1 (NPEPL1) gene. [provided by RefSeq, Mar 2011]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Pseudohypoparathyroidism type 1B
MedGen: C1864100OMIM: 603233GeneReviews: Not available
See labs

Genomic context

Location:
20q13.32
Sequence:
Chromosome: 20; NC_000020.11 (58651253..58679526)
Total number of exons:
9

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.

Support Center