ESS2

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.

Ess-2 Splicing Factor Homolog

May be involved in pre-mRNA splicing.

mRNA splicing, via spliceosome Source: UniProtKB
Nervous system development Source: UniProtKB

Nucleus