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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. Note: This description may include information from UniProtKB.
Protein type: Membrane protein, integral; Vesicle
Chromosomal Location of Human Ortholog: 20q13.32
Cellular Component: cytoplasm; focal adhesion; Golgi apparatus; Golgi cisterna; Golgi membrane; integral to membrane; intracellular membrane-bound organelle; perinuclear region of cytoplasm; SNARE complex; trans-Golgi network; trans-Golgi network membrane
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
Reference #:  O14662 (UniProtKB)
Alt. Names/Synonyms: hsyn16; MGC90328; STX16; Syn16; syntaxin 16; Syntaxin-16
Gene Symbols: STX16
Molecular weight: 37,031 Da
Basal Isoelectric point: 5.75  Predict pI for various phosphorylation states
Select Structure to View Below


Protein Structure Not Found.

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