STX16 gene

syntaxin 16

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

SNARE involved in vesicular transport from the late endosomes to the trans-Golgi network.

From NCBI Gene:

  • Pseudohypoparathyroidism type 1B

From UniProt:

Pseudohypoparathyroidism 1B (PHP1B): A disorder characterized by end-organ resistance to parathyroid hormone, hypocalcemia and hyperphosphatemia. Patients affected with PHP1B lack developmental defects characteristic of Albright hereditary osteodystrophy, and typically show no other endocrine abnormalities besides resistance to PTH. [MIM:603233]

Cytogenetic Location: 20q13.32, which is the long (q) arm of chromosome 20 at position 13.32

Molecular Location: base pairs 58,651,253 to 58,679,526 on chromosome 20 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 20q13.32, which is the long (q) arm of chromosome 20 at position 13.32