PLP1 : proteolipid protein 1
Description
The PLP1 (proteolipid protein 1) is a protein-coding gene located on chromosome X.
The PLP1 gene provides instructions for making two proteins: proteolipid protein 1 and DM20. Proteolipid protein 1 is mainly found in the brain and spinal cord nerves (central nervous system), while DM20 is primarily produced in nerves connecting the brain and spinal cord to muscles (peripheral nervous system). Both proteins are embedded in the nerve cell membrane, forming a significant part of myelin and helping anchor it to the cells. Myelin is a fatty coating that insulates nerve fibers and allows for fast nerve impulse transmission.
PLP1 is also known as GPM6C, HLD1, MMPL, PLP, PLP/DM20, PMD, SPG2.
Associated Diseases
- Pelizaeus-Merzbacher disease
- Pelizaeus-Merzbacher disease, transitional form
- Null syndrome
- Pelizaeus-Merzbacher disease in female carriers
- Pelizaeus-Merzbacher disease, connatal form
- Pelizaeus-Merzbacher disease, classic form
- Spastic paraplegia 2, X-linked
- Spastic paraplegia type 2
