Entrez gene ID | | 9581 |
Official gene symbol | | PREPL |
Full name | | prolyl endopeptidase-like |
Aliases | | ,FLJ16627,KIAA0436, |
Gene 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. |
Location | | Chromosome: 2 Locus: 2p21 |
Gene position | | 44589001 - 44544746 Map Viewer |
Gene orientation | | minus |
Gene size | | 44256 bp |
Gene sequence |
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OMIM ID | | 609557 |
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