THOP1
Description
The THOP1 (thimet oligopeptidase 1) is a protein-coding gene located on chromosome 19.
Thimet oligopeptidase is an enzyme that in humans is encoded by the THOP1 gene.
Thimet oligopeptidase is involved in the metabolism of neuropeptides under 20 amino acid residues long. It plays a role in cytoplasmic peptide degradation (PubMed:7639763, PubMed:17251185). The enzyme is capable of degrading the amyloid-beta precursor protein and generating amyloidogenic fragments (PubMed:7639763, PubMed:17251185). Additionally, it acts as a regulator of the cannabinoid signaling pathway by mediating the degradation of hemopressin, an antagonist peptide of the cannabinoid receptor CNR1 (By similarity).
THOP1 is also known as EP24.15, MEPD_HUMAN, MP78, TOP.
Associated Diseases
- Cernunnos-XLF deficiency
- autoimmune lymphoproliferative syndrome type 4
- inborn error of immunity
- Bernard-Soulier syndrome
- common variable immunodeficiency
- neutropenia, severe congenital, 1, autosomal dominant
- thrombocytopenia 7
- monocytopenia with susceptibility to infections
- Glanzmann thrombasthenia 1
- bleeding disorder, platelet-type, 24
- retinitis pigmentosa and erythrocytic microcytosis
