Gene: ESS2

Alternate names for this Gene: DGCR13|DGCR14|DGS-H|DGS-I|DGSH|DGSI|ES2|ESS-2|Es2el|bis1

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. Alternatively spliced transcript variants have been found for this gene.

Gene is located in Chromosome: 22

Location in Chromosome : 22q11.21|22q11.2

Description of this Gene: ess-2 splicing factor homolog

Type of Gene: protein-coding