SNF8 Rabbit Polyclonal Antibody, 50ul Yeast Expression Mutations in this gene may

Mutations in this gene may be associated with the neurological condition hyperplexia and also lead to molybdenum cofactor deficiency

Among its related pathways are Translation Insulin regulation of translation and Wnt signaling pathway (KEGG)

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Expressed in fetal heart

The RGS domain of this protein interacts with G alpha(s)| accelerates its GTP hydrolysis| and attenuates G alpha(s)-mediated signaling

SNF8 Rabbit Polyclonal Antibody, 50ul Yeast Expression Mutations in this gene mayThe protein encoded by this gene is a component of the endosomal sorting complex required for transport II (ESCRT II) which regulates the movement of ubiquitinylated transmembrane proteins to the lysosome for degradation. This complex also interacts with the RNA polymerase II elongation factor (ELL) to overcome the repressive effects of ELL on RNA polymerase II activity. Several transcript variants encoding different isoforms have been found for this