PRS27 Polyclonal Antibody, 20ul Polyclonal Antibody Preparation Expansion of an ATTCT repeat

Expansion of an ATTCT repeat from 9-32 copies to 800-4500 copies in an intronic region of this locus has been associated with spinocerebellar ataxia

induction:Detected at low levels at interphase and in resting cells

UBE3B (ubiquitin protein ligase E3B) encodes a member of the E3 ubiquitin-conjugating enzyme family which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme and transfers the ubiquitin to the targeted substrates

Mutations in this gene have been associated with gnathodiaphyseal dysplasia

Mutations in COL17A1 are associated with both generalized atrophic benign and junctional epidermolysis bullosa

PRS27 Polyclonal Antibody, 20ul Polyclonal Antibody Preparation Expansion of an ATTCT repeatThis gene is located within a large protease gene cluster on chromosome 16. It belongs to the group 1 subfamily of serine proteases. The encoded protein is a secreted tryptic serine protease and is expressed mainly in the pancreas. Alternative splicing results in multiple transcript variants.