PHOSPHO1
Description
The PHOSPHO1 (phosphoethanolamine/phosphocholine phosphatase 1) is a protein-coding gene located on chromosome 17.
PHOSPHO1 is an enzyme highly expressed in mineralizing cells, crucial for bone and cartilage formation. It breaks down phosphoethanolamine and phosphocholine into ethanolamine/choline and phosphate. This enzyme belongs to the haloacid dehalogenase superfamily, requiring a metal ion, typically Mg2+, for activity. It can also utilize Co2+ or Mn2+ but with lower efficiency.
PHOSPHO1 is a phosphatase that preferentially hydrolyzes phosphoethanolamine (PEA) and phosphocholine (PCho), contributing to the generation of inorganic phosphate (Pi) essential for bone mineralization. It plays a crucial role in skeletal mineralization, acting in a non-redundant manner with tissue-nonspecific alkaline phosphatase (TNAP/ALPL). While PHOSPHO1 initiates hydroxyapatite crystal formation within matrix vesicles (MVs), TNAP facilitates the spread of hydroxyapatite crystallization throughout the extracellular matrix.
PHOSPHO1 is also known as -.
Associated Diseases
- type 1 diabetes mellitus
- asthma
- essential hypertension
- multiple epiphyseal dysplasia type 1
- metaphyseal chondrodysplasia, Spahr type
