PRSS12 Antibody – Mouse Monoclonal

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]

PRSS12: Plays a role in neuronal plasticity and the proteolytic action may subserve structural reorganizations associated with learning and memory operations. Defects in PRSS12 are the cause of mental retardation autosomal recessive type 1 (MRT1). Mental retardation is a mental disorder characterized by significantly sub-average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. Non-syndromic mental retardation patients do not manifest other clinical signs. Belongs to the peptidase S1 family.

Protein type: Protease; Vesicle; EC 3.4.21.-; Secreted, signal peptide; Secreted

Chromosomal Location of Human Ortholog: 4q28.1

Cellular Component: axon; dendrite; extracellular region; plasma membrane; terminal button; cytoplasmic vesicle

Molecular Function: serine-type peptidase activity; serine-type endopeptidase activity; scavenger receptor activity

Biological Process: receptor-mediated endocytosis; exocytosis; zymogen activation; proteolysis

Disease: Mental Retardation, Autosomal Recessive 1