MOXD1
Description
The MOXD1 (monooxygenase DBH like 1) is a protein-coding gene located on chromosome 6.
MOXD1 (Monooxygenase X) is an enzyme encoded by the MOXD1 gene in humans. It shares structural similarities with dopamine beta-monooxygenase (DBH), another copper-containing monooxygenase, and likely utilizes ascorbate as a cofactor. MOXD1 localizes to the endoplasmic reticulum and is involved in the metabolism of an unknown substrate, potentially related to catecholamine synthesis. While MOXD1 is not secreted and its specific function remains elusive, it represents a new family of copper type II monooxygenases. Deficiencies in DBH, a related enzyme, are treatable with L-threo-3,4-dihydroxyphenylserine (DOPS).
MOXD1, also known as Monooxygenase X, is a copper-containing enzyme that utilizes ascorbate as a cofactor. It is localized within the endoplasmic reticulum and plays a role in the metabolism of an unknown substrate, potentially related to catecholamine synthesis. However, the specific function of MOXD1 remains unclear, as it is not secreted and has not been definitively linked to a particular pathway.
MOXD1 is also known as MOX, PRO5780, dJ248E1.1.
Associated Diseases
- isolated hyperchlorhidrosis
- Ehlers-Danlos syndrome
- pancreatic ductal adenocarcinoma
- urinary bladder carcinoma
- cystic fibrosis
