UBQL2 Polyclonal Antibody, 50ul Monoclonal Antibodies Mutations in PDHA1 are associated

Mutations in PDHA1 are associated with pyruvate dehydrogenase E1-alpha deficiency and X-linked Leigh syndrome

Mutations resulting in haploinsufficiency for this gene cause familial acne inversa-2 (ACNINV2)

LST8 interacts directly with FRAP1 and enhances its kinase activity

The encoded protein is mainly involved in catalyzing native disulfide bond formation and displays activity similar to protein-disulfide isomerases

Several alpha defensin genes are clustered on chromosome 8

UBQL2 Polyclonal Antibody, 50ul Monoclonal Antibodies Mutations in PDHA1 are associatedThis gene encodes an ubiquitin like protein (ubiquilin) that shares high degree of similarity with related products in yeast, rat and frog. Ubiquilins contain a N terminal ubiquitin like domain and a C terminal ubiquitin associated domain. They physically associate with both proteasomes and ubiquitin ligases; and thus, are thought to functionally link the ubiquitination machinery to the proteasome to affect in vivo protein degradation. This ubiquilin