Home
>
Product
>
Antibody
>
Rabbit Anti-Synaptophysin/FITC Conjugated antibody
background:
This gene encodes an integral membrane protein of small synaptic vesicles in brain and endocrine cells. The protein also binds cholesterol and is thought to direct targeting of vesicle-associated membrane protein 2 (synaptobrevin) to intracellular compartments. Mutations in this gene are associated with X-linked mental retardation (XLMR). [provided by RefSeq, Aug 2011]
Function:
Possibly involved in structural functions as organizing other membrane components or in targeting the vesicles to the plasma membrane. Involved in the regulation of short-term and long-term synaptic plasticity.
Subcellular Location:
Cytoplasmic vesicle > secretory vesicle > synaptic vesicle membrane. Cell junction > synapse > synaptosome.
Tissue Specificity:
Characteristic of a type of small (30-80 nm) neurosecretory vesicles, including presynaptic vesicles, but also vesicles of various neuroendocrine cells of both neuronal and epithelial phenotype.
Post-translational modifications:
Ubiquitinated; mediated by SIAH1 or SIAH2 and leading to its subsequent proteasomal degradation.
DISEASE:
Defects in SYP are the cause of mental retardation X-linked SYP-related (MRXSYP) [MIM:300802]. Mental retardation is characterized by significantly below average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period.
Similarity:
Belongs to the synaptophysin/synaptobrevin family.
Contains 1 MARVEL domain.
Database links:
Entrez Gene: 280937 Cow
Entrez Gene: 6855 Human
Entrez Gene: 20977 Mouse
Entrez Gene: 4964 Rat
Omim: 313475 Human
SwissProt: P20488 Cow
SwissProt: P08247 Human
SwissProt: Q62277 Mouse
SwissProt: P07825 Rat
Unigene: 632804 Human
Unigene: 223674 Mouse
Unigene: 11067 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
|
|