Synonyms:CMS22, ENTREZ:9581, HGNC:30228, MIM:609557, NM_001042385, NM_001042386, NM_001171603, NM_001171606, NM_001171613, NM_001171617, NM_001374275, NM_001374276, NM_001374277, NM_006036, NP_001035844, NP_001035845, NP_001165074, NP_001165077, NP_001165084, NP_001165088, NP_001361204, NP_001361205, NP_001361206, NP_006027, PREPL, XM_017005384, XM_017005385, XP_016860873, XP_016860874, prolyl endopeptidase like
Omim:OMIM:609557
Id:ENSG00000138078
Hgnc:HGNC:30228
Description:prolyl endopeptidase like
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.[provided by RefSeq, Jan 2010]