SELENOI
Description
The SELENOI (selenoprotein I) is a protein-coding gene located on chromosome 2.
Ethanolaminephosphotransferase that catalyzes the transfer of phosphoethanolamine/PE from CDP-ethanolamine to lipid acceptors, the final step in the synthesis of PE via the 'Kennedy' pathway (PubMed:17132865, PubMed:28052917, PubMed:29500230). PE is the second most abundant phospholipid of membranes in mammals and is involved in various membrane-related cellular processes (PubMed:17132865). The enzyme is critical for the synthesis of several PE species and could also catalyze the synthesis of ether-linked phospholipids like plasmanyl- and plasmenyl-PE which could explain it is required for proper myelination and neurodevelopment (PubMed:29500230).
SELENOI is also known as EPT1, SELI, SEPI, SPG81.
Associated Diseases
- Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
- Spastic paraplegia 81, autosomal recessive
