CHM Rabbit Polyclonal Antibody

Specifications

Product Data
Applications	IHC
Recommend Dilution	IHC: 50-200 Positive control: Human esophagus cancer Predicted cell location: Cytoplasm
Reactivity	Human
Host	Rabbit
Clonality	Polyclonal
Immunogen	Synthetic peptide of human CHM
Formulation	pH7.4 PBS, 0.05% NaN3, 40% Glycerol
Concentration	lot specific
Purification	Antigen affinity purification
Conjugation	Unconjugated
Storage Condition	Store at -20°C.
Gene Name	CHM, Rab escort protein 1
Database Link	Entrez Gene 1121 Human UniProt ID P24386
Background	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. Alternatively spliced transcript variants have been found for this gene.
Synonyms	choroideremia; DXS540; FLJ38564; GGTA; HSD-32; MGC102710; REP-1; REP1; TCD
Reference Data

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