Syntaxin-16
Function
SNARE involved in vesicular transport from the late endosomes to the trans-Golgi network.
Involvement in disease
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.
None
The gene represented in this entry is involved in disease pathogenesis. Microdeletions involving STX16 can cause loss of methylation at exon A/B of GNAS, resulting in PHP1B.
Sequence Similarities
Belongs to the syntaxin family.
Tissue Specificity
Ubiquitous.
Cellular localization
- Golgi apparatus membrane
- Single-pass type IV membrane protein
- Isoform C
- Cytoplasm
Alternative names
Syntaxin-16, Syn16, STX16