靶标:
PREPL
产品别名:
CMS22; PREPL; prolyl endopeptidase like; prolyl endopeptidase like; prolyl endopeptidase-like; putative prolyl oligopeptidase;
背景信息:
The protein encoded by this gene belongs to the prolyl oligopeptidase subfamily of serine peptidases. Mutations in this gene have been associated with hypotonia-cystinuria syndrome, also known as the 2p21 deletion syndrome. Several alternatively spliced transcript variants encoding either the same or different isoforms have been described for this gene.