{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nSyntaxin‐16 (STX16) encodes a t‐SNARE protein whose genomic region plays a critical cis‐acting role in regulating the imprinting of the adjacent GNAS locus. Microdeletions in STX16 have been repeatedly implicated in autosomal dominant pseudohypoparathyroidism type Ib (AD‐PHP‐Ib) by causing an isolated loss of methylation at GNAS exon A/B. Although these deletions disrupt a key imprinting control element essential for proper Gαs expression and hormone responsiveness, STX16 itself is biallelically expressed, indicating that the pathogenic mechanism is not due to haploinsufficiency of the gene product but rather to a regulatory defect affecting GNAS."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "8"}]}, {"type": "t", "text": "\n\nDis primis, syntaxin‐16 plays a central role in intracellular vesicular trafficking. It functions as a core component of the SNARE machinery that mediates retrograde transport from early and recycling endosomes to the trans‐Golgi network. This function is critical for the proper delivery of both exogenous toxins (such as Shiga toxin) and endogenous cargoes like the mannose 6-phosphate receptor and the cystic fibrosis transmembrane conductance regulator (CFTR). Furthermore, by forming complexes with its SNARE partners, syntaxin‐16 contributes to the preservation of Golgi ribbon integrity, highlighting its importance in maintaining overall organelle structure and function."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "9", "end_ref": "11"}]}, {"type": "t", "text": "\n\nFusce class lectus, syntaxin‐16 also has key roles in cell division and neuronal development. During late telophase, it is recruited to the midzone and midbody via its interaction with the tumor suppressor RASSF1A—a process regulated by Aurora B–mediated phosphorylation—which is indispensable for the timely progression of cytokinesis. In the nervous system, syntaxin‐16 is enriched in dendrites and localized at Golgi outposts, where it promotes neurite outgrowth and contributes to the establishment of neuronal polarity by regulating both anterograde and retrograde membrane trafficking."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "12", "end_ref": "14"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Agnès Linglart, Robert C Gensure, Robert C Olney, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A novel STX16 deletion in autosomal dominant pseudohypoparathyroidism type Ib redefines the boundaries of a cis-acting imprinting control element of GNAS."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1086/429932"}], "href": "https://doi.org/10.1086/429932"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15800843"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15800843"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Serap Turan, Jaakko Ignatius, Jukka S Moilanen, et al. 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"}, {"type": "b", "children": [{"type": "t", "text": "Macrosomia, obesity, and macrocephaly as first clinical presentation of PHP1b caused by STX16 deletion."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Med Genet A (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/ajmg.a.37818"}], "href": "https://doi.org/10.1002/ajmg.a.37818"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27338644"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27338644"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Zentaro Kiuchi, Monica Reyes, Harald Jüppner "}, {"type": "b", "children": [{"type": "t", "text": "Preferential Maternal Transmission of STX16-GNAS Mutations Responsible for Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B): Another Example of Transmission Ratio Distortion."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Bone Miner Res (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/jbmr.4221"}], "href": "https://doi.org/10.1002/jbmr.4221"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "33247854"}], "href": "https://pubmed.ncbi.nlm.nih.gov/33247854"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Zentaro Kiuchi, Monica Reyes, Patrick Hanna, et al. 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