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 and contains a signal peptide, a proline-rich region, a Kringle domain, four scavenger receptor cysteine-rich domains, and a trypsin-like serine protease domain. The protein, sometimes referred to as neurotrypsin or motopsin, is secreted from neuronal cells and localizes to the synaptic cleft. Studies in mice show that this protein cleaves a protein, agrin, that is important for the formation and maintenance of exitatory synapses. Defects in this gene cause a form of autosomal recessive cognitive impairment (MRT1). [provided by RefSeq, Jul 2017]

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: 4q26, which is the long (q) arm of chromosome 4 at position 26

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

Cytogenetic Location: 4q26, which is the long (q) arm of chromosome 4 at position 26
  • BSSP-3
  • BSSP3
  • MRT1