Rab Proteins Geranylgeranyltransferase Component A 1 (CHM) Antibody

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292.5€ (80 µl)

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935106861
info@markelab.com
name
Rab Proteins Geranylgeranyltransferase Component A 1 (CHM) Antibody
category
Primary Antibodies
provider
Abbexa
reference
abx031377
tested applications
ELISA, WB

Description

This gene encodes component A of the RAB geranylgeranyl transferase holoenzyme. In the dimeric holoenzyme, this subunit binds unprenylated Rab GTPases and then presents them to the catalytic Rab GGTase subunit for the geranylgeranyl transfer reaction. Rab GTPases need to be geranylgeranyled on either one or two cysteine residues in their C-terminus to localize to the correct intracellular membrane. Mutations in this gene are a cause of choroideremia; also known as tapetochoroidal dystrophy (TCD). This X-linked disease is characterized by progressive dystrophy of the choroid, retinal pigment epithelium and retina. Alternative splicing results in multiple transcript variants encoding different isoforms.

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Instrucciones
Data sheet
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Product specifications

Category
Primary Antibodies
Immunogen Target
Rab Proteins Geranylgeranyltransferase Component A 1 (CHM)
Host
Rabbit
Reactivity
Human
Recommended Dilution
WB: 1/1000. Optimal dilutions/concentrations should be determined by the end user.
Clonality
Polyclonal
Conjugation
Unconjugated
Isotype
IgG
Purification
Purified through a protein A column, followed by peptide affinity purification.
Size 1
80 µl
Size 2
400 µl
Form
Liquid
Tested Applications
ELISA, WB
Buffer
PBS containing 0.09% sodium azide.
Availability
Shipped within 5-10 working days.
Storage
Aliquot and store at -20°C. Avoid repeated freeze/thaw cycles.
Dry Ice
No
UniProt ID
P24386
Background
Antibody anti-CHM
Status
RUO

Descripción

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Rab Proteins Geranylgeranyltransferase Component A 1 (CHM) Antibody

This gene encodes component A of the RAB geranylgeranyl transferase holoenzyme. In the dimeric holoenzyme, this subunit binds unprenylated Rab GTPases and then presents them to the catalytic Rab GGTase subunit for the geranylgeranyl transfer reaction. Rab GTPases need to be geranylgeranyled on either one or two cysteine residues in their C-terminus to localize to the correct intracellular membrane. Mutations in this gene are a cause of choroideremia; also known as tapetochoroidal dystrophy (TCD). This X-linked disease is characterized by progressive dystrophy of the choroid, retinal pigment epithelium and retina. Alternative splicing results in multiple transcript variants encoding different isoforms.

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