Chromosome 5 Open Reading Frame 42 (C5orf42)

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Chromosome 5 Open Reading Frame 42 (C5orf42)
Changes in the structure of chromosome 5 are associated with certain forms of cancer and conditions related to cancer. These changes are typically somatic, which means they are acquired during a person's lifetime and are present only in tumor cells. Deletions in the long (q) arm of the chromosome have been identified in a form of blood cancer known as acute myeloid leukemia (AML). These deletions also frequently occur in a disorder called myelodysplastic syndrome, which is a disease of the blood and bone marrow. People with this condition have a low number of red blood cells (anemia) and an increased risk of developing AML. When myelodysplastic syndrome is associated with a specific deletion in the long arm of chromosome 5, it is known as 5q- (5q minus) syndrome.Studies suggest that some genes on chromosome 5 play critical roles in the growth and division of cells.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Chromosome 5 Open Reading Frame 42 (C5orf42) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Chromosome 5 Open Reading Frame 42 (C5orf42) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Chromosome 5 Open Reading Frame 42 (C5orf42) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Chromosome 5 Open Reading Frame 42 (C5orf42) CLIA Kit Customized Service Offer
n/a ELISA Kit for Chromosome 5 Open Reading Frame 42 (C5orf42) ELISA Kit Customized Service Offer
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  2. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  4. "Mutations in TMEM231 cause Joubert syndrome in French Canadians."J. Med. Genet. 49:636-641(2012) [PubMed] [Europe PMC] [Abstract]
  5. "C5orf42 is the major gene responsible for OFD syndrome type VI." Hum. Genet. 133:367-377(2014) [PubMed] [Europe PMC] [Abstract]
  6. "Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population."Am. J. Hum. Genet. 90:693-700(2012) [PubMed] [Europe PMC] [Abstract]
  7. "Exome sequencing identifies KIAA1377 and C5orf42 as susceptibility genes for monomelic amyotrophy."Neuromuscul. Disord. 22:394-400(2012) [PubMed] [Europe PMC] [Abstract]