Aliases for PRSS12 Gene
External Ids for PRSS12 Gene
Previous GeneCards Identifiers for PRSS12 Gene
This gene encodes a member of the trypsin family of serine proteases. Studies in mouse suggest that the encoded enzyme may be involved in structural reorganizations associated with learning and memory. The enzyme is also expressed in Leydig cells in the testis, but its function in this tissue is unknown. Defects in this gene are a cause of mental retardation autosomal recessive type 1 (MRT1). [provided by RefSeq, Jul 2010]
GeneCards Summary for PRSS12 Gene
PRSS12 (Protease, Serine, 12 (Neurotrypsin, Motopsin)) is a Protein Coding gene. Diseases associated with PRSS12 include autosomal recessive non-syndromic intellectual disability and axenfeld-rieger syndrome, type 3. GO annotations related to this gene include serine-type endopeptidase activity and serine-type peptidase activity. An important paralog of this gene is LOXL1.
UniProtKB/Swiss-Prot for PRSS12 Gene
Plays a role in neuronal plasticity and the proteolytic action may subserve structural reorganizations associated with learning and memory operations.