GNS Polyclonal Antibody, 50ul Bacterial Expression Alternate splicing of KLK8 results

Alternate splicing of KLK8 results in multiple transcript variants encoding different isoforms

which sequester the cytosol and organelles for degradation by lysosomes

Studies of a similar gene in mouse suggest a role in the pathogenesis of Huntington disease

This gene encodes a member of the peptidase A1 family of aspartic proteases

GNS Polyclonal Antibody, 50ul Bacterial Expression Alternate splicing of KLK8 resultsThe product of this gene is a lysosomal enzyme found in all cells. It is involved in the catabolism of heparin, heparan sulphate, and keratan sulphate. Deficiency of this enzyme results in the accumulation of undegraded substrate and the lysosomal storage disorder mucopolysaccharidosis type IIID (Sanfilippo D syndrome). Mucopolysaccharidosis type IIID is the least common of the four subtypes of Sanfilippo syndrome.