STX16 Antibody – Rabbit Polyclonal

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]

STX16: SNARE involved in vesicular transport from the late endosomes to the trans-Golgi network. Genetic variations in STX16 may be a cause of pseudohypoparathyroidism type 1B (PHP1B). Pseudohypoparathyroidism refers to a heterogeneous group of disorders characterized by resistance to parathyroid hormone (PTH). PHP1B is characterized by PTH-resistant 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. In some cases microdeletions involving STX16 appear to cause loss of methylation at exon A/B of the GNAS gene, resulting in PHP1B. Belongs to the syntaxin family. 5 isoforms of the human protein are produced by alternative splicing.

Protein type: Membrane protein, integral; Vesicle

Chromosomal Location of Human Ortholog: 20q13.32

Cellular Component: cytoplasm; cytosol; endoplasmic reticulum; focal adhesion; Golgi apparatus; Golgi cisterna; Golgi membrane; integral to membrane; intracellular membrane-bound organelle; membrane; perinuclear region of cytoplasm; SNARE complex; trans-Golgi network

Molecular Function: protein binding; SNAP receptor activity; syntaxin binding

Biological Process: intracellular protein transport; retrograde transport, endosome to Golgi; vesicle docking; vesicle fusion

Disease: Pseudohypoparathyroidism, Type Ib