Gene Symbol | PREPL |
Entrez Gene ID | 9581 |
Full Name | prolyl endopeptidase like |
Synonyms | CMS22 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | ?Myasthenic syndrome, congenital, 22, 616224 (3) |