ENTPD7
Description
The ENTPD7 (ectonucleoside triphosphate diphosphohydrolase 7) is a protein-coding gene located on chromosome 10.
Ectonucleoside triphosphate diphosphohydrolase 7 (ENTPD7) is a protein that plays a crucial role in purinergic signaling. It is encoded by the ENTPD7 gene and functions as an ectoenzyme, meaning it operates outside of cells. Specifically, ENTPD7 hydrolyzes extracellular nucleoside triphosphates (UTP, GTP, and CTP) into nucleoside monophosphates. This process is part of a complex signaling pathway involving purines. Structurally, ENTPD7 possesses two transmembrane domains located at its N- and C-termini. Between these domains lies a large, hydrophobic catalytic domain. Beyond its involvement in purinergic signaling, ENTPD7 is also associated with oxidative stress, DNA damage, and cellular senescence.
NTPDase 7 hydrolyzes nucleoside triphosphates and diphosphates, requiring either calcium or magnesium for this activity. It exhibits a preference for nucleoside 5'-triphosphates, with a specific order of preference: UTP, then GTP, and finally CTP. While it can hydrolyze ATP and nucleoside diphosphates, it does so to a lesser extent.
ENTPD7 is also known as LALP1.
Associated Diseases
- colorectal cancer
- Leigh syndrome
- diverticulitis
- cytochrome-c oxidase deficiency disease
- common variable immunodeficiency
- inborn error of immunity
- X-linked severe congenital neutropenia
- severe combined immunodeficiency due to IKK2 deficiency
- combined immunodeficiency due to partial RAG1 deficiency
- Cernunnos-XLF deficiency
- isolated agammaglobulinemia
- severe combined immunodeficiency due to DCLRE1C deficiency
