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Rabbit Anti-Neurotrypsin antibody
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]
Function:
Plays a role in neuronal plasticity and the proteolytic action may subserve structural reorganizations associated with learning and memory operations.
Subcellular Location:
Secreted.
Tissue Specificity:
Brain and Leydig cells of the testis.
DISEASE:
Defects in PRSS12 are the cause of mental retardation autosomal recessive type 1 (MRT1) [MIM:249500]. 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.
Similarity:
Belongs to the peptidase S1 family.
Contains 1 kringle domain.
Contains 1 peptidase S1 domain.
Contains 4 SRCR domains.
SWISS:
P56730
Gene ID:
8492
Database links:
Entrez Gene: 8492 Human
Entrez Gene: 19142 Mouse
Entrez Gene: 85266 Rat
SwissProt: P56730 Human
SwissProt: O08762 Mouse
SwissProt: Q99JC8 Rat
Unigene: 445857 Human
Unigene: 9431 Mouse
Unigene: 86653 Rat
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