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Choroideremia (Rab Escort Protein 1) (CHM) ELISA Kits

CHM encodes component A of the RAB geranylgeranyl transferase holoenzyme. Additionally we are shipping CHM Antibodies (30) and CHM Proteins (3) and many more products for this protein.

list all ELISA KIts Gene Name GeneID UniProt
Anti-Human CHM CHM 1121 P24386
Anti-Rat CHM CHM 24942 P37727
Anti-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. 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.

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

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

  3. 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.

  4. 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.

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

  6. 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.

  7. 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.

  8. These findings demonstrate a novel CHM mutation that emphasizes severe posterior pole carrier phenotypes, age-related changes, and early choroideremia disease.

  9. In Mainland Chinese families, the central visual acuity of male patients with CHM can be affected at an early age (second decade), whereas female CHM carriers may manifest signs and symptoms at a later age (>/= 45 years).

  10. We identified a novel REP1 missense variant (c.1520A>G; p.H507R) associated with CHM that prevents REP1-Rab (show HRB ELISA Kits) geranylgeranyl transferase interaction.

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

  1. these results show that PSF (show Il3 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

  2. 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

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

  4. A protein complex was identified containing PSPC1 (show PSPC1 ELISA Kits), PSF (show Il3 ELISA Kits) and LMX1B (show LMX1B ELISA Kits), suggesting the existence of this complex in mesodiencephalic dopaminergic neurons.

  5. PSF (show Il3 ELISA Kits) contributes to the stability of a subset of histone genes and that loss of H2AE expression in the PSF (show Il3 ELISA Kits)-deficient thymocytes uniquely contributes to an increase in thymic apoptosis.

  6. analysis indicates PSF (show Il3 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

  7. 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.

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

  9. PSPC1 (show PSPC1 ELISA Kits), NONO (show NONO ELISA Kits), and SFPQ form complexes with each other in Sertoli cells and may regulate androgen receptor (show AR ELISA Kits)-mediated transcriptional activity

  10. Hippocampal mRNA expression of Psf (show Il3 ELISA Kits) is up-regulated during contextual fear memory formation in both sexes as a specific result of the context/tone-shock association. Changes in splicing factor (show SLU7 ELISA Kits) expression during LTM formation regulate alternative splicing.

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.

Gene names and symbols associated with CHM

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

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

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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