catalog number :
MBS1302555
products type :
Recombinant Protein
products full name :
Recombinant Human Vacuolar protein sorting-associated protein 13A
products short name :
Vacuolar protein sorting-associated protein 13A
products name syn :
Chorea-acanthocytosis protein; Chorein
other names :
vacuolar protein sorting-associated protein 13A isoform C; Vacuolar protein sorting-associated protein 13A; vacuolar protein sorting-associated protein 13A; vacuolar protein sorting 13 homolog A (S. cerevisiae); Chorea-acanthocytosis protein; Chorein
products gene name :
VPS13A
other gene names :
VPS13A; VPS13A; CHAC; CHOREIN; CHAC; KIAA0986
uniprot entry name :
VP13A_HUMAN
host :
E Coli or Yeast or Baculovirus or Mammalian Cell
sequence positions :
3037-3140
sequence :
RPPRFFNEDGVIRPYRLRDGTGNQMLQVMENGRFAKYKY
FTHVMINKTDMLMITRRGVLFVTKGTFGQLTCEWQYSFD
EFTKEPFIVHGRRLRIEAKERVKSVF
purity :
Greater than 90% as determined by SDS-PAGE.
form :
Liquid containing glycerol; lyophilization may be available upon request.
storage stability :
Store at -20 degree C, for extended storage, conserve at -20 degree C or -80 degree C.
other info2 :
Species: Homo sapiens (Human)
products categories :
Neuroscience
products description :
May play a role in the control of protein cycling through the trans-Golgi network to early and late endosomes, lysosomes and plasma membrane.
products references :
Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
Nagase T., Ishikawa K., Suyama M., Kikuno R., Hirosawa M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
DNA Res. 6:63-70(1999)
ncbi acc num :
NP_001018047.1
ncbi gb acc num :
NM_001018037.1
ncbi mol weight :
28.47kD
ncbi summary :
The protein encoded by this gene may control steps in the cycling of proteins through the trans-Golgi network to endosomes, lysosomes and the plasma membrane. Mutations in this gene cause the autosomal recessive disorder, chorea-acanthocytosis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]
uniprot summary :
VPS13A: May play a role in the control of protein cycling through the trans-Golgi network to early and late endosomes, lysosomes and plasma membrane. Defects in VPS13A are the cause of chorea-acanthocytosis (CHAC); also known as Levine-Critchley syndrome. CHAC is an autosomal recessive neurodegenerative disorder characterized by the gradual onset of hyperkinetic movements and abnormal erythrocyte morphology. Basal ganglia atrophy in the brain is a pathological feature of the disease. Other clinical symptoms include psychiatric features, epilepsy, peripheral neuropathy, myopathy and oral self-mutilation. Belongs to the VPS13 family. 4 isoforms of the human protein are produced by alternative splicing. Chromosomal Location of Human Ortholog: 9q21. Cellular Component: extrinsic to membrane; intracellular. Molecular Function: protein binding. Biological Process: Golgi to endosome transport; locomotory behavior; nervous system development; protein localization; protein transport; social behavior. Disease: Choreoacanthocytosis
size5 :
0.05 mg (Baculovirus)