Rabbit Anti-Chorein antibody

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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

Species Reactivity：

(predicted: Human,Mouse,Rat,Cow,Horse,Sheep,)

Immunogen：

KLH conjugated synthetic peptide derived from human Chorein:3001-3174/3174

Format：

Liquid

Storage instructions：

Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.

Concentration：

1mg/ml

Clonality：

Polyclonal

Isotype：

IgG

Applications：

ELISA=1:5000-10000IHC-P=1:100-500IHC-F=1:100-500ICC=1:100-500IF=1:100-500（Paraffin sections need to do antigen repair）not yet tested in other applications.optimal dilutions/concentrations should be determined by the end user.

Host：

Rabbit

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Unit:

Price: $228.00

Product PDFs

Datasheet: Down Datasheet

Other Information
Citations
Protein Attributes
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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.

SWISS:
Q96RL7

Gene ID:
23230

Database links:

Entrez Gene: 23230 Human

Omim: 605978 Human

SwissProt: Q96RL7 Human

Unigene: 459790 Human

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