PREPL gene

prolyl endopeptidase-like

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Probable serine peptidase whose precise substrate specificity remains unclear. Does not cleave peptides after a arginine or lysine residue. May play a role in the regulation of synaptic vesiscle exocytosis (PubMed:24610330).

From NCBI Gene:

  • Myasthenic syndrome, congenital, 22

From UniProt:

Myasthenic syndrome, congenital, 22 (CMS22): A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features include easy fatigability and muscle weakness. CMS22 is an autosomal recessive form characterized by neonatal hypotonia. [MIM:616224]

Hypotonia-cystinuria syndrome (HCS): Characterized generalized hypotonia at birth, nephrolithiasis, growth hormone deficiency, minor facial dysmorphism, failure to thrive, followed by hyperphagia and rapid weight gain in late childhood. [MIM:606407]

Cytogenetic Location: 2p21, which is the short (p) arm of chromosome 2 at position 21

Molecular Location: base pairs 44,317,607 to 44,361,862 on chromosome 2 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 2p21, which is the short (p) arm of chromosome 2 at position 21