Vacuolar protein sorting-associated protein 13A Recombinant Protein | VPS13A recombinant protein

Recombinant Human Vacuolar protein sorting-associated protein 13A

Cat. Num. AAA1302555

• Gene Names: VPS13A; CHAC; CHOREIN
• Purity: Greater or equal to 85% purity as determined by SDS-PAGE.
• Synonyms: Vacuolar protein sorting-associated protein 13A; Recombinant Human Vacuolar protein sorting-associated protein 13A; Chorea-acanthocytosis protein; Chorein; VPS13A recombinant protein

• Host: E Coli or Yeast or Baculovirus or Mammalian Cell
• Purity/Purification: Greater or equal to 85% purity as determined by SDS-PAGE.
• Form/Format: Lyophilized or liquid (Format to be determined during the manufacturing process)
• Sequence Positions: 3037-3140aa; Partial
• Sequence: RPPRFFNEDGVIRPYRLRDGTGNQMLQVMENGRFAKYKYFTHVMINKTDMLMITRRGVLFVTKGTFGQLTCEWQYSFDEFTKEPFIVHGRRLRIEAKERVKSVF
• Sequence Length: 3135

• Species: Homo sapiens (Human)
• Preparation and Storage: Store at -20 degree C, for extended storage, conserve at -20 degree C or -80 degree C.

SDS-Page

Related Product Information for VPS13A recombinant protein

May play a role in the control of protein cycling through the trans-Golgi network to early and late endosomes, lysosomes and plasma membrane.

Product Categories/Family for VPS13A recombinant protein

Neuroscience

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 and Uniprot Product Information

• NCBI GI #: 66346672
• NCBI GeneID: 23230
• NCBI Accession #: NP_001018047.1
• NCBI GenBank Nucleotide #: NM_001018037.1
• UniProt Accession #: Q96RL7; Q5JSX9; Q5JSY0; Q5VYR5; Q702P4; Q709D0; Q86YF8; Q96S61; Q9H995; Q9Y2J1
• Molecular Weight: 28.5 kDa
• NCBI Official Full Name: vacuolar protein sorting-associated protein 13A isoform C
• NCBI Official Synonym Full Names: vacuolar protein sorting 13 homolog A (S. cerevisiae)
• NCBI Official Symbol: VPS13A
• NCBI Official Synonym Symbols: CHAC; CHOREIN
• NCBI Protein Information: vacuolar protein sorting-associated protein 13A
• UniProt Protein Name: Vacuolar protein sorting-associated protein 13A
• Protein Family: Vacuolar protein sorting-associated protein
• UniProt Gene Name: VPS13A
• UniProt Synonym Gene Names: CHAC; KIAA0986
• UniProt Entry Name: VP13A_HUMAN

NCBI Description

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 Description

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