产品名称
STX16 Rabbit Polyclonal Antibody
存储缓冲液
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% New type preservative N.
Human Gene Link
https://www.uniprot.org/uniprot/8675
Human Swissprot No.
O14662
Human Swissprot Link
https://www.uniprot.org/uniprotkb/O14662/entry
Mouse Gene Link
https://www.uniprot.org/uniprot/228960
Mouse Swissprot No.
Q8BVI5
Mouse Swissprot Link
https://www.uniprot.org/uniprotkb/Q8BVI5
免疫原
Synthesized peptide derived from human STX16 AA range: 209-259
特异性
This antibody detects endogenous levels of STX16 at Human/Mouse
宿主
Polyclonal, Rabbit,IgG
背景介绍
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. [provided by RefSeq, Mar 2011],
细胞定位
Golgi apparatus membrane; Single-pass type IV membrane protein.; [Isoform C]: Cytoplasm.
功能
disease: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.,function:SNARE involved in a vesicular transport step within the Golgi stack.,similarity:Belongs to the syntaxin family.,similarity:Contains 1 t-SNARE coiled-coil homology domain.,tissue specificity:Ubiquitous.,
纯化
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
