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Rabbit Anti-CHM Recombinant Antibody (EPR7142) (CBMAB-1362-CN)

This product is a rabbit antibody that recognizes CHM of human. The antibody EPR7142 can be used for immunoassay techniques such as: FC, IF, WB.
See all CHM antibodies

Summary

Host Animal
Rabbit
Specificity
Human, Mouse, Rat
Clone
EPR7142
Antibody Isotype
IgG
Application
FC, IF, WB

Basic Information

Immunogen
Synthetic peptide corresponding to residues in Human CHM.
Specificity
Human, Mouse, Rat
Antibody Isotype
IgG
Clonality
Monoclonal
Application Notes
The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Formulations & Storage [For reference only, actual COA shall prevail!]

Format
Liquid
Buffer
50% Glycerol, 0.05% BSA
Preservative
0.01% Sodium azide
Storage
Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freeze/thaw cycles.

Target

Full Name
CHM, Rab Escort Protein 1
Introduction
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. 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.
Entrez Gene ID
Human1121
Mouse12662
Rat24942
UniProt ID
HumanP24386
MouseQ9QXG2
RatP37727
Alternative Names
TCD; GGTA; REP-1; DXS540; HSD-32
Function
Substrate-binding subunit of the Rab geranylgeranyltransferase (GGTase) complex. Binds unprenylated Rab proteins and presents the substrate peptide to the catalytic component B composed of RABGGTA and RABGGTB, and remains bound to it after the geranylgeranyl transfer reaction. The component A is thought to be regenerated by transferring its prenylated Rab back to the donor membrane. Besides, a pre-formed complex consisting of CHM and the Rab GGTase dimer (RGGT or component B) can bind to and prenylate Rab proteins; this alternative pathway is proposed to be the predominant pathway for Rab protein geranylgeranylation.
Biological Process
Positive regulation of GTPase activity Source: GOC
Post-translational protein modification Source: Reactome
Protein geranylgeranylation Source: UniProtKB
Protein targeting to membrane Source: UniProtKB
Regulation of apoptotic process Source: Reactome
Small GTPase mediated signal transduction Source: InterPro
Vesicle-mediated transport Source: GO_Central
Visual perception Source: ProtInc
Cellular Location
Cytosol
Involvement in disease
Choroideremia (CHM): An X-linked recessive disease characterized by a slowly progressive degeneration of the choroid, photoreceptors, and retinal pigment epithelium. Affected males develop night blindness in their teenage years followed by loss of peripheral vision and complete blindness at middle age. Carrier females are generally asymptomatic but funduscopic examination often shows patchy areas of chorioretinal atrophy.

Fioretti, T., Di Iorio, V., Lombardo, B., De Falco, F., Cevenini, A., Cattaneo, F., ... & Esposito, G. (2021). Molecular Characterization of Choroideremia-Associated Deletions Reveals an Unexpected Regulation of CHM Gene Transcription. Genes, 12(8), 1111.

Jones, K. D., Radziwon, A., Birch, D. G., & MacDonald, I. M. (2020). A novel SVA retrotransposon insertion in the CHM gene results in loss of REP-1 causing choroideremia. Ophthalmic Genetics, 41(4), 341-344.

Skorczyk-Werner, A., Wawrocka, A., Kochalska, N., & Krawczynski, M. R. (2018). Novel CHM mutations in Polish patients with choroideremia–an orphan disease with close perspective of treatment. Orphanet journal of rare diseases, 13(1), 1-7.

Zahid, S., Branham, K., Schlegel, D., Pennesi, M. E., Michaelides, M., Heckenlively, J., & Jayasundera, T. (2018). CHM. In Retinal Dystrophy Gene Atlas (pp. 55-57). Springer, Cham.

Imani, S., Ijaz, I., Shasaltaneh, M. D., Fu, S., Cheng, J., & Fu, J. (2018). Molecular genetics‎ characterization and homology modeling of the CHM gene mutation: a study on its association with choroideremia. Mutation Research/Reviews in Mutation Research, 775, 39-50.

Garanto, A., Van der Velde-Visser, S. D., Cremers, F. P., & Collin, R. W. (2018). Antisense oligonucleotide-based splice correction of a deep-intronic mutation in CHM underlying choroideremia. In Retinal Degenerative Diseases (pp. 83-89). Springer, Cham.

Radziwon, A., Arno, G., K. Wheaton, D., McDonagh, E. M., Baple, E. L., Webb‐Jones, K., ... & MacDonald, I. M. (2017). Single‐base substitutions in the CHM promoter as a cause of choroideremia. Human mutation, 38(6), 704-715.

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For research use only. Not intended for any clinical use.

Custom Antibody Labeling

We also offer labeled antibodies developed using our catalog antibody products and nonfluorescent conjugates (HRP, AP, Biotin, etc.) or fluorescent conjugates (Alexa Fluor, FITC, TRITC, Rhodamine, Texas Red, R-PE, APC, Qdot Probes, Pacific Dyes, etc.).

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