Human Gene PLP1 (uc004elk.3) Description and Page Index
Description: Homo sapiens proteolipid protein 1 (PLP1), transcript variant 1, mRNA. RefSeq Summary (NM_000533): This gene encodes a transmembrane proteolipid protein that is the predominant component of myelin. The encoded protein may play a role in the compaction, stabilization, and maintenance of myelin sheaths, as well as in oligodendrocyte development and axonal survival. Mutations in this gene cause Pelizaeus-Merzbacher disease and spastic paraplegia type 2. Alternatively splicing results in multiple transcript variants, including the DM20 splice variant. [provided by RefSeq, Feb 2015]. Transcript (Including UTRs) Position: hg19 chrX:103,031,754-103,047,547 Size: 15,794 Total Exon Count: 7 Strand: + Coding Region Position: hg19 chrX:103,031,924-103,045,526 Size: 13,603 Coding Exon Count: 7
ID:MYPR_HUMAN DESCRIPTION: RecName: Full=Myelin proteolipid protein; Short=PLP; AltName: Full=Lipophilin; FUNCTION: This is the major myelin protein from the central nervous system. It plays an important role in the formation or maintenance of the multilamellar structure of myelin. SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein. DISEASE: Defects in PLP1 are the cause of leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]; also known as Pelizaeus-Merzbacher disease. HLD1 is an X-linked recessive dysmyelinating disorder of the central nervous system in which myelin is not formed properly. It is characterized clinically by nystagmus, spastic quadriplegia, ataxia, and developmental delay. DISEASE: Defects in PLP1 are the cause of spastic paraplegia X- linked type 2 (SPG2) [MIM:312920]. SPG2 is characterized by spastic gait and hyperreflexia. In some patients, complicating features include nystagmus, dysarthria, sensory disturbance, mental retardation, optic atrophy. SIMILARITY: Belongs to the myelin proteolipid protein family. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PLP1";
Genetic Association Studies of Complex Diseases and Disorders
connatal Pelizaeus-Merzbacher disease Yamamoto T et al. 1999, A novel mutation (A246T) in exon 6 of the proteolipid protein gene associated with connatal Pelizaeus-Merzbacher disease., Human mutation. 1999 Aug;14(2):182.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P60201
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.