Gene: DGCR6

Alternate names for this Gene: -

Gene Summary: DiGeorge syndrome, and more widely, the CATCH 22 syndrome, are associated with microdeletions in chromosomal region 22q11.2. The product of this gene shares homology with the Drosophila melanogaster gonadal protein, which participates in gonadal and germ cell development, and with the gamma-1 subunit of human laminin. This gene is a candidate for involvement in DiGeorge syndrome pathology and in schizophrenia.

Gene is located in Chromosome: 22

Location in Chromosome : 22q11.21|22q11

Description of this Gene: DiGeorge syndrome critical region gene 6

Type of Gene: protein-coding

rs2080346 in DGCR6 gene and Amino acids measurement PMID 30659259 2019 Genetic basis for plasma amino acid concentrations based on absolute quantification: a genome-wide association study in the Japanese population.

rs2080346 in DGCR6 gene and Proline measurement PMID 30659259 2019 Genetic basis for plasma amino acid concentrations based on absolute quantification: a genome-wide association study in the Japanese population.