DGCR6

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. [provided by RefSeq, Nov 2008]

Description

DiGeorge syndrome critical region gene 6

Tissue specificity

Group enriched (heart muscle, skeletal muscle)

Predicted location

Intracellular

Protein family

Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins

Chromosome

22 (18906028 - 18914238)

Ensembl ID

ENSG00000183628  (ver. 103.38)

Orthologs

-

UniProt

Q14129

neXtProt

NX_Q14129

Human splice variants

Protein structure