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Chorein Rabbit pAb

Chorein Rabbit pAb

     
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Product Information
Application
  • Applications Legend:
  • E=ELISA
  • WB=Western Blotting
  • IHC=Immunohistochemistry
  • IHC-P=Immunohistochemistry (Paraffin)
  • IP=Immunoprecipitation
  • IF=Immunofluorescence
  • IC=Immunochemistry
  • ICC=Immunocytochemistry
  • FC=Flow Cytometry
  • DB=Dot Blot
IHC-P, IHC-F, IF
Primary Accession Q96RL7
Predicted Rat, Human, Mouse, Horse, Sheep
Host Rabbit
Clonality Polyclonal
Calculated MW 360276 Da
Physical State Liquid
Immunogen KLH conjugated synthetic peptide derived from human Chorein
Epitope Specificity 3001-3174/3174
Isotype IgG
Purity affinity purified by Protein A
Buffer 0.01M TBS (pH7.4) with 1% BSA, 0.02% Proclin300 and 50% Glycerol.
DISEASE Choreoacanthocytosis (CHAC) [MIM:200150]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Important Note This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
Background Descriptions Chorein 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.
Additional Information
Gene ID 23230
Other Names Intermembrane lipid transfer protein VPS13A, Chorea-acanthocytosis protein, Chorein, Vacuolar protein sorting-associated protein 13A, VPS13A, CHAC, KIAA0986
Dilution IHC-P=1:100-500,IHC-F=1:100-500,ICC/IF=1:100-500,IF=1:100-500,ELISA=1:5000-10000
StorageStore at -20 °C for one year. Avoid repeated freeze/thaw cycles. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of antibody the antibody is stable for at least two weeks at 2-4 °C.

For Research Use Only. Not For Use In Diagnostic Procedures.

Protein Information
Name VPS13A
Synonyms CHAC, KIAA0986
Function Mediates the transfer of lipids between membranes at organelle contact sites (By similarity). Binds phospholipids (PubMed:34830155). Required for the formation or stabilization of ER- mitochondria contact sites which enable transfer of lipids between the ER and mitochondria (PubMed:30741634). Negatively regulates lipid droplet size and motility (PubMed:30741634). Required for efficient lysosomal protein degradation (PubMed:30709847).
Cellular Location Mitochondrion outer membrane; Peripheral membrane protein. Endoplasmic reticulum membrane; Peripheral membrane protein. Endosome membrane; Peripheral membrane protein. Lysosome membrane; Peripheral membrane protein. Lipid droplet. Golgi apparatus {ECO:0000250|UniProtKB:Q5H8C4}. Cytoplasmic vesicle, secretory vesicle, neuronal dense core vesicle {ECO:0000250|UniProtKB:Q5H8C4}. Note=Localizes at mitochondria- endosomes and mitochondria-endoplasmic reticulum contact sites (PubMed:30093493, PubMed:30709847, PubMed:30741634)
Tissue Location Expressed in red blood cells (at protein level) (PubMed:31086825). Widely expressed, with high expression in brain, heart, skeletal muscle and kidney (PubMed:15498460)
Research Areas

BACKGROUND

This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.

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