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

Mutations in this gene have been associated with gnathodiaphyseal dysplasia

Survival factors can suppress apoptosis in a transcription-independent manner by activating the serine/threonine kinase AKT1

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

SPZ1 (spermatogenic leucine zipper 1) encodes a bHLH-zip transcription factor which functions in the mitogen-activate protein kinase (MAPK) signaling pathway

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.