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DiGeorge Syndrome Critical Region Gene 6 Like Protein (DGCR6L)

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DiGeorge Syndrome Critical Region Gene 6 Like Protein (DGCR6L)
CCC N730
HGNC 18551
PubMed 22832905
UniProt Q9BY27
DGCR6L is a protein that shares homology with the Drosophila gonadal protein, expressed in gonadal tissues and germ cells, and with the human laminin gamma-1 chain that functions in cell attachment and migration. This gene is located in a region of chromosome 22 implicated in the DiGeorge syndrome, one facet of a broader collection of anomalies referred to as the CATCH 22 syndrome.
The 2 cDNAs share 97% identity, and the deduced 220-amino acid proteins share 97% identity. There are 7 amino acid differences between them, 2 of which are conservative changes. PCR analysis using transcript-specific primers revealed DGCR6 expression in all adult and fetal tissues examined, whereas DGCR6L was expressed in all tissues tested except adult skeletal muscle and small intestine.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant DiGeorge Syndrome Critical Region Gene 6 Like Protein (DGCR6L) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to DiGeorge Syndrome Critical Region Gene 6 Like Protein (DGCR6L) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to DiGeorge Syndrome Critical Region Gene 6 Like Protein (DGCR6L) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for DiGeorge Syndrome Critical Region Gene 6 Like Protein (DGCR6L) CLIA Kit Customized Service Offer
n/a ELISA Kit for DiGeorge Syndrome Critical Region Gene 6 Like Protein (DGCR6L) ELISA Kit Customized Service Offer
  1. "Two functional copies of the DGCR6 gene are present on human chromosome 22q11 due to a duplication of an ancestral locus."Genome Res. 11:208-217(2001) [PubMed] [Europe PMC] [Abstract]
  2. "Biochemical characterisation of the proteins encoded by the DiGeorge critical region 6 (DGCR6) genes."Hum. Genet. 117:70-80(2005) [PubMed] [Europe PMC] [Abstract]
  3. "A genome annotation-driven approach to cloning the human ORFeome."Genome Biol. 5:R84.1-R84.11(2004) [PubMed] [Europe PMC] [Abstract]
  4. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  5. "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]