Browse our CHM (CHM) ELISA Kits

Full name:
Choroideremia (Rab Escort Protein 1) ELISA Kits (CHM)
On www.antibodies-online.com are 0 Choroideremia (Rab Escort Protein 1) (CHM) ELISA Kits from different suppliers available. Additionally we are shipping CHM Antibodies (34) and CHM Proteins (3) and many more products for this protein. A total of 39 CHM products are currently listed.
Synonyms:
1110004P21Rik, 2810416M14Rik, 5730453G22Rik, 9030402K04Rik, AU021830, CHM, D4Ertd314e, DKFZp459K2154, DXS540, GGTA, Gm12940, HSD-32, MGC68578, OTTMUSG00000009329, PSF, Rep-1, REP1, TCD
list all ELISA KIts Gene Name GeneID UniProt
Human CHM CHM 1121 P24386
Rat CHM CHM 24942 P37727
Mouse CHM CHM 12662  

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More ELISA Kits for CHM Interaction Partners

Zebrafish Choroideremia (Rab Escort Protein 1) (CHM) interaction partners

  1. 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.

  2. 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.

  3. 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.

Human Choroideremia (Rab Escort Protein 1) (CHM) interaction partners

  1. Our results showed CNV within the Rep-1 gene could be an important contributor in Chinese Choroideremia patients.

  2. 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.

  3. 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.

  4. Six previously reported and five novel CHM mutations were detected in 11 Australian families clinically diagnosed with choroideremia.

  5. The family segregated a REP1 mutation, suggesting choroideremia (CHM).

  6. We report a novel CHM mutation, c.1475_1476insCA, identified by whole-exome sequencing in a family with X-linked CHM initially diagnosed as retinitis pigmentosa.

  7. Sanger sequencing confirmed the mutations in CHM, including four novel (c.558_559delTT, c.964G>T, c.966delA, c.1166+2T>G) and two known (c.7031G>A and c.1584_1587delTGTT) mutations.

  8. the clinical and molecular findings of an Italian family with a new mutation in the choroideremia (CHM) gene, are reported.

  9. While likely an uncommon event, duplication within the CHM gene could be considered as an explanation for CHM cases in which no mutation is found by sequence analysis.

  10. Data found pathogenic DNA variants in the genes RP1 (show STK19 ELISA Kits), USH2A (show USH2A ELISA Kits), CNGB3 (show CNGB3 ELISA Kits), NMNAT1 (show NMNAT1 ELISA Kits), CHM, and ABCA4 (show ABCA4 ELISA Kits), responsible for retinitis pigmentosa, Usher syndrome, achromatopsia, Leber congenital amaurosis, choroideremia, or recessive Stargardt/cone-rod dystrophy cases.

Mouse (Murine) Choroideremia (Rab Escort Protein 1) (CHM) interaction partners

  1. data demonstrate that SFPQ orchestrates spatial gene expression of a newly identified RNA regulon essential for axonal viability.

  2. These results are compatible with the idea that SFPQ, plays an important role regulating proliferation and migration during the development of the cerebral cortex.

  3. these results show that PSF (show IL-3 ELISA Kits) can repress the transcriptional activation of VEGF (show VEGFA ELISA Kits) stimulated by IGF-1 (show IGF1 ELISA Kits) via recruitment of the Hakai (show CBLL1 ELISA Kits) complex

  4. Quantitative proteomics reveals dynamic interaction of JNK (show MAPK8 ELISA Kits) with RNA transport granule proteins Sfpq and Nono (show NONO ELISA Kits) during neuronal differentiation

  5. Loss of the Chm/Rep1 gene causes premature accumulation of features of aging in the retinal pigment epithelium.

  6. A protein complex was identified containing PSPC1 (show PSPC1 ELISA Kits), PSF (show IL-3 ELISA Kits) and LMX1B (show LMX1B ELISA Kits), suggesting the existence of this complex in mesodiencephalic dopaminergic neurons.

  7. PSF (show IL-3 ELISA Kits) contributes to the stability of a subset of histone genes and that loss of H2AE expression in the PSF (show IL-3 ELISA Kits)-deficient thymocytes uniquely contributes to an increase in thymic apoptosis.

  8. analysis indicates PSF (show IL-3 ELISA Kits) within the PER complex recruits SIN3A, a scaffold for assembly of transcriptional inhibitory complexes, and the PER complex thereby rhythmically delivers histone deacetylases to the Per1 (show PER1 ELISA Kits) promoter, which repress Per1 (show PER1 ELISA Kits) transcription

  9. Basal and cyclic AMP (show TMPRSS5 ELISA Kits)-induced Rbp4 (show RBP4 ELISA Kits) transcription is regulated by a multiprotein complex that is similar to ones that modulate expression of genes of steroid hormone biosynthesis.

  10. identified as a protein kinase (show CDK7 ELISA Kits) Calpha (show PRKACA ELISA Kits)-binding protein in the cell nucleus

CHM Antigen Profile

Antigen Summary

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.

Alternative names and synonyms associated with CHM

  • choroideremia (Rab escort protein 1) (chm) Elisa Kit
  • choroideremia (Rab escort protein 1) (CHM) Elisa Kit
  • choroideremia (CHM) Elisa Kit
  • choroideremia (Rab escort protein 1) (Chm) Elisa Kit
  • choroidermia (Chm) Elisa Kit
  • splicing factor proline/glutamine rich (polypyrimidine tract binding protein associated) (Sfpq) Elisa Kit
  • 1110004P21Rik Elisa Kit
  • 2810416M14Rik Elisa Kit
  • 5730453G22Rik Elisa Kit
  • 9030402K04Rik Elisa Kit
  • AU021830 Elisa Kit
  • CHM Elisa Kit
  • D4Ertd314e Elisa Kit
  • DKFZp459K2154 Elisa Kit
  • DXS540 Elisa Kit
  • GGTA Elisa Kit
  • Gm12940 Elisa Kit
  • HSD-32 Elisa Kit
  • MGC68578 Elisa Kit
  • OTTMUSG00000009329 Elisa Kit
  • PSF Elisa Kit
  • Rep-1 Elisa Kit
  • REP1 Elisa Kit
  • TCD Elisa Kit

Protein level used designations for CHM

Rab escort protein 1 , rab proteins geranylgeranyltransferase component A 2 , choroideremia (Rab escort protein 1) , choroideremia , choroideremia protein , rab proteins geranylgeranyltransferase component A 1 , REP-1 , choroideraemia protein homolog , choroideremia protein homolog , choroidermia , rab escort protein 1 , DNA-binding p52/p100 complex, 100 kDa subunit , PTB-associated splicing factor , PTB-associated-splicing factor , polypyrimidine tract-binding protein-associated-splicing factor , splicing factor, proline- and glutamine-rich

GENE ID SPECIES
402935 Danio rerio
465737 Pan troglodytes
480972 Canis lupus familiaris
519552 Bos taurus
694499 Macaca mulatta
100171869 Pongo abelii
399048 Xenopus laevis
1121 Homo sapiens
24942 Rattus norvegicus
12662 Mus musculus
71514 Mus musculus
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