PRSS12 gene

protease, serine 12

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

From NCBI 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]

From UniProt:

Plays a role in neuronal plasticity and the proteolytic action may subserve structural reorganizations associated with learning and memory operations.

From NCBI Gene:

  • Mental retardation, autosomal recessive 1

From UniProt:

Mental retardation, autosomal recessive 1 (MRT1): A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Non-syndromic mental retardation patients do not manifest other clinical signs. [MIM:249500]

Cytogenetic Location: 4q28.1, which is the long (q) arm of chromosome 4 at position 28.1

Molecular Location: base pairs 118,280,038 to 118,353,042 on chromosome 4 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 4q28.1, which is the long (q) arm of chromosome 4 at position 28.1
  • BSSP-3
  • BSSP3
  • MRT1