功能SNARE involved in vesicular transport from the late endosomes to the trans-Golgi network.
疾病相关Genetic variations in STX16 may be a cause of pseudohypoparathyroidism type 1B (PHP1B) [MIM:603233]. 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.
序列相似性Belongs to the syntaxin family. Contains 1 t-SNARE coiled-coil homology domain.
Charng WL et al. Drosophila Tempura, a novel protein prenyltransferase a subunit, regulates notch signaling via Rab1 and Rab11. PLoS Biol12:e1001777 (2014).
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Hornbruch-Freitag C et al. Drosophila Swiprosin-1/EFHD2 accumulates at the prefusion complex stage during Drosophila myoblast fusion. J Cell Sci124:3266-78 (2011).
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