Products

Western Blot (Cell lysate)

Western Blot (Recombinant protein)

ELISA

Entrez GeneID

GeneBank Accession#

Protein Accession#

Gene Name

DGCR14

Gene Alias

DGCR13, DGS-H, DGS-I, DGSH, DGSI, ES2, Es2el

Gene Description

DiGeorge syndrome critical region gene 14

Omim ID

Gene Ontology

Gene Summary

This gene is located within the minimal DGS critical region (MDGCR) thought to contain the gene(s) responsible for a group of developmental disorders. These disorders include DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome, and some familial or sporadic conotruncal cardiac defects which have been associated with microdeletion of 22q11.2. The encoded protein may be a component of C complex spliceosomes, and the orthologous protein in the mouse localizes to the nucleus. [provided by RefSeq

Other Designations

DiGeorge syndrome critical region gene 13|DiGeorge syndrome critical region gene DGSI|DiGeorge syndrome critical region protein 14|DiGeorge syndrome gene H|DiGeorge syndrome gene I|Protein DGCR13