Home > Product > Antibody > Rabbit Anti-Chorein/FITC Conjugated antibody
CHAC; Chorea acanthocytosis; Chorea acanthocytosis protein; FLJ42030; KIAA0986; Vacuolar protein sorting 13 homolog A (S. cerevisiae); Vacuolar protein sorting 13 homolog A; Vacuolar protein sorting 13A; Vacuolar protein sorting associated protein 13A; VP
Cat:
SL13922R-FITC
Species Reactivity:
(predicted: Human,Mouse,Rat,Cow,Horse,Sheep,)
Immunogen:
KLH conjugated synthetic peptide derived from human Chorein
Format:
Lyophilized or Liquid
Storage instructions:
Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. The lyophilized antibody is stable at room temperature for at least one month and for greater than a year when kept at -20°C. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of ant
Buffer:
0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.
Concentration:
1mg/ml
Clonality:
Polyclonal
Isotype:
IgG
Applications:
ICC=1:50-200IF=1:50-200not yet tested in other applications.optimal dilutions/concentrations should be determined by the end user.
Host:
Rabbit
Calculated MW:
360kDa
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Unit:
Price: $
Product PDFs
Datasheet:


background:
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.

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

Tissue Specificity:
Widely expressed. Higher expression is found in brain, heart, skeletal muscle and kidney.

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.

Similarity:
Belongs to the VPS13 family.
Contains 10 TPR repeats.

Database links:

Entrez Gene: 23230 Human

Omim: 605978 Human

SwissProt: Q96RL7 Human

Unigene: 459790 Human



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