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syntaxin 16 may selectively regulate Golgi dynamics
Syntaxin 16 regulates lumen formation during kidney epithelial morphogenesis.
Syntaxin 16 may thus play a role in neurite outgrowth and perhaps other specific dendritic anterograde/retrograde traffic.
we here present a patient with PHP1b (zeige GNAS Proteine) caused by a recurrent STX16 deletion, presenting with macrosomia, early onset obesity, and macrocephaly without other AHO (zeige GNAS Proteine) symptoms. we reemphasize STX16 deletions and PHP1b (zeige GNAS Proteine) as a rare cause for early onset obesity and macrosomia.
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 key regulator of cytokinesis.
Data indicate that depletion of VAMP4 (zeige VAMP4 Proteine), syntaxin 6 (zeige STX6 Proteine), syntaxin 16, and Vti1a (zeige VTI1A Proteine) disrupted the Golgi ribbon structure.
A patient with familial pseudohypoparathyroidism type Ib and his asymptomatic brother were found to have methylation defect at GNAS (zeige GNAS Proteine) (guanine nucleotide-binding protein (zeige COASY Proteine) G) and microdeletion involving exons 4-6 of neighboring gene STX16. [CASE REPORT]
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.
Results suggest that STX16 mediates recycling of CFTR (zeige CFTR Proteine) and constitutes an important component of CFTR (zeige CFTR Proteine) trafficking machinery in intestinal epithelial cells.
the region of overlap between the two microdeletions likely harbors a cis (zeige CISH Proteine)-acting imprinting control element that is necessary for establishing and methylation at GNAS (zeige GNAS Proteine) exon A/B, thus allowing normal G alpha(s (zeige GNAS Proteine)) expression in the proximal renal tubules. I
function of syntaxin 16 was specifically required for, and restricted to, the retrograde pathway
This gene encodes a protein that is a member of the syntaxin or t-SNARE (target-SNAP receptor) family. These proteins are found on cell membranes and serve as the targets for V-SNARES (vesicle-SNAP receptors) permitting specific synaptic vesicle docking and fusion. A microdeletion in the region of chromosome 20 where this gene is located has been associated with pseudohypoparathyroidism type Ib. Multiple transcript variants have been found for this gene. Read-through transcription also exists between this gene and the neighboring downstream aminopeptidase-like 1 (NPEPL1) gene.
, syntaxin 16
, syntaxin 16 a
, Syntaxin 16