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anti-Human CHM Antibodies:
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Horse (Equine) Polyclonal CHM Primary Antibody for WB - ABIN2792245
Ishiguro, Yamamoto, Fujita, Akasu, Kobayashi, Moriya: Effect of a clinical pathway after laparoscopic surgery for colorectal cancer. in Hepato-gastroenterology 2008
Show all 2 Pubmed References
Human Polyclonal CHM Primary Antibody for WB - ABIN1881197
Renner, Fiebig, Cropp, Weber, Kellner: Progression of retinal pigment epithelial alterations during long-term follow-up in female carriers of choroideremia and report of a novel CHM mutation. in Archives of ophthalmology 2009
In Choroideremia(Y42X/y) fibroblasts, there was a recovery of prenylation activity following treatment with either PTC124 (42 +/- 5%) or PTC-414 (36 +/- 11%), although an increase in REP1 protein was not detected in these cells, in contrast to the zebrafish model.
The degenerative phenotype resulting from a null mutation in the zebrafish gene indicates that hair cells and retinal cells require Rab escort protein 1 for survival.
The results of this study propose that in chm(-/-) zebrafish, maternally derived rep allows initial successful development of the embryo, but its gradual loss leads to multisystem disease and invariably to lethality.
REP1 plays a crucial role in regulating mTOR (show FRAP1 Antibodies) signaling and its downstream pathways, as well as autophagy and macropinocytosis.
All coding exons and flanking intronic regions of the CHM gene revealed a novel small deletion at a splice site (c.184_189+3delTACCAGGTA) in one patient and a deletion of the entire exon 9 in the other.
These findings suggest that the CHM promoter region should be examined in patients with CHM who lack coding sequence mutations, and reveals, for the first time, features of the gene's regulation
We report here the characterization of the third pathogenic missense CHM variant, p.Leu457Pro. Clinically, the associated phenotype is indistinguishable from that of loss-of-function mutations.
Retinal dystrophy (show MERTK Antibodies) and SDD were detected in our female CHM carriers, and fundus patterns
Overexpression of REP1 in BEAS-2B cells enhanced cell growth and anchorage-independent colony formation with little increase in EGFR (show EGFR Antibodies) level and STAT3 (show STAT3 Antibodies) activation.
we demonstrated that REP1 blocked the nuclear trans-localization of FOXO3 through physically interacting with FOXO3, thereby suppressing FOXO3-mediated apoptosis. Importantly, the inhibition of REP1 combined with 5-FU treatment could lead to significant retarded tumor growth in a xenograft tumor model of human cancer cells
Our results showed CNV within the Rep-1 gene could be an important contributor in Chinese Choroideremia patients.
We describe the causative mutations in a large cohort of patients who also were examined clinically and explore potential genotype-phenotype correlations. By so doing, we further aimed to make inferences regarding the importance of particular regions of the CHM gene with respect to mutagenesis and to infer the importance of particular regions of the REP1 protein essential for normal function.
Loss of the Chm/Rep1 gene causes premature accumulation of features of aging in the retinal pigment epithelium.
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.
choroideremia (Rab escort protein 1)
, Rab escort protein 1
, rab proteins geranylgeranyltransferase component A 2
, choroideremia protein
, rab proteins geranylgeranyltransferase component A 1
, choroideraemia protein homolog
, choroideremia protein homolog
, rab escort protein 1