STX16 Antibody

1. we here present a patient with PHP1b caused by a recurrent STX16 deletion, presenting with macrosomia, early onset obesity, and macrocephaly without other AHO symptoms. we reemphasize STX16 deletions and PHP1b as a rare cause for early onset obesity and macrosomia. PMID: 27338644
2. 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] PMID: 25843330
3. syntaxin 16 is a key regulator of cytokinesis. PMID: 24109596
4. A patient with familial pseudohypoparathyroidism type Ib and his asymptomatic brother were found to have methylation defect at GNAS (guanine nucleotide-binding protein G) and microdeletion involving exons 4-6 of neighboring gene STX16. [CASE REPORT] PMID: 23095209
5. De novo 3-kb STX16 deletions, reported only once previously, are infrequent but should be excluded in all cases of Pseudohypoparathyroidism-Ib, even when the family history is negative for an inherited form of this disorder. PMID: 23087324
6. Results suggest that STX16 mediates recycling of CFTR and constitutes an important component of CFTR trafficking machinery in intestinal epithelial cells. PMID: 20826815
7. the region of overlap between the two microdeletions likely harbors a cis-acting imprinting control element that is necessary for establishing and methylation at GNAS exon A/B, thus allowing normal G alpha(s) expression in the proximal renal tubules. I PMID: 15800843
8. function of syntaxin 16 was specifically required for, and restricted to, the retrograde pathway PMID: 17389686
9. Syntaxin 16 may thus play a role in neurite outgrowth and perhaps other specific dendritic anterograde/retrograde traffic. PMID: 17852734
10. phosphorylation of RASSF1A by Aurora B is required for the recruitment of Syntaxin16 PMID: 19887622

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HGNC: 11431

OMIM: 603233

KEGG: hsa:8675

STRING: 9606.ENSP00000360183

UniGene: Hs.307913