Mar 30, 2025 · STX16 (Syntaxin 16) is a Protein Coding gene. Diseases associated with STX16 include Pseudohypoparathyroidism, Type Ib and Hypoparathyroidism . Among its related pathways are Vesicle-mediated transport and Golgi-to-ER retrograde transport .

Syntaxin-16 is a protein that in humans is encoded by the STX16 gene. [5] [6] [7] [8] It has been associated with pseudohypoparathyroidism type Ib. Losing this gene causes loss of methylation at GNAS1 exon A/B. [7]

Nov 17, 2006 · By searching sequence databases for syntaxin-like proteins, Tang et al. (1998) identified a human cDNA encoding a novel syntaxin, which they designated syntaxin-16 (SYN16). The predicted 307-amino acid protein contains the C-terminal hydrophobic tail anchor characteristic of syntaxins, and several potential coiled-coil regions.

Dec 10, 2024 · Clinical resource with information about STX16, Longitudinal genome-wide association of cardiovascular disease risk factors in the Bogalusa heart study., Pseudohypoparathyroidism type 1B, and available tests.

Jul 27, 2011 · Stx16. Status. UniProtKB reviewed (Swiss-Prot) Organism. Mus musculus (Mouse) Amino acids. 326 (go to sequence) Protein existence. Evidence at protein level. Annotation score. 4/5. Entry. Variant viewer. Feature viewer. Genomic coordinates. Publications. External links. History. Tools. Download Add Add a publication Entry feedback.

STX16 microdeletion was identified in male monozygotic twins (with pseudohypoparathyroidism type 1B leading to growth hormone deficiency) and mother/grandmother (not father/grandfather or sister [their triplet with separate placenta]). [CASE STUDY] syntaxin 16 is a …

STX16 microdeletion was identified in male monozygotic twins (with pseudohypoparathyroidism type 1B leading to growth hormone deficiency) and mother/grandmother (not father/grandfather or sister [their triplet with separate placenta]). [CASE STUDY]

Jan 24, 2006 · Microdeletions involving STX16 can cause loss of methylation at exon A/B of GNAS, resulting in PHP1B. A disorder characterized by end-organ resistance to parathyroid hormone, hypocalcemia and hyperphosphatemia.

lovd: stx16 Diseases List Disease-causing germline mutation(s) in Pseudohypoparathyroidism type 1B ORPHA:94089

Syntaxin 16, a Qa-SNARE (soluble N -ethylmaleimide-sensitive factor activating protein receptor), is involved in a number of membrane-trafficking activities, particularly transport processes at the trans-Golgi network (TGN). Recent works have now …