LMP012346 UniProt Annotations
Gene Name proteolipid protein 1
Protein Entry
UniProt ID P60201
Species Human
Comment type Description
Alternative Products Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P60201-1; Sequence=Displayed; Name=DM-20; IsoId=P60201-2; Sequence=VSP_003325;
Disease Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080]: A X-linked recessive disorder of the central nervous system in which myelin is not formed properly. Clinically characterized by nystagmus, spastic quadriplegia, ataxia, and developmental delay. {ECO:0000269|PubMed:10417279, ECO:0000269|PubMed:10425042, ECO:0000269|PubMed:11093273, ECO:0000269|PubMed:11786921, ECO:0000269|PubMed:1376966, ECO:0000269|PubMed:1384324, ECO:0000269|PubMed:15712223, ECO:0000269|PubMed:1707231, ECO:0000269|PubMed:1708672, ECO:0000269|PubMed:1715570, ECO:0000269|PubMed:2479017, ECO:0000269|PubMed:2480601, ECO:0000269|PubMed:2773936, ECO:0000269|PubMed:7531827, ECO:0000269|PubMed:7539213, ECO:0000269|PubMed:7541731, ECO:0000269|PubMed:7573159, ECO:0000269|PubMed:7679906, ECO:0000269|PubMed:7683951, ECO:0000269|PubMed:7684886, ECO:0000269|PubMed:8037216, ECO:0000269|PubMed:8909455, ECO:0000269|PubMed:9008538, ECO:0000269|PubMed:9143933, ECO:0000269|PubMed:9482656, ECO:0000269|PubMed:9633722, ECO:0000269|PubMed:9747038, ECO:0000269|PubMed:9788732, ECO:0000269|PubMed:9894878, ECO:0000269|PubMed:9934976}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Disease Spastic paraplegia 2, X-linked (SPG2) [MIM:312920]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG2 is characterized by spastic gait and hyperreflexia. In some patients, complicating features include nystagmus, dysarthria, sensory disturbance, mental retardation, optic atrophy. {ECO:0000269|PubMed:10319897, ECO:0000269|PubMed:11093273, ECO:0000269|PubMed:15450775, ECO:0000269|PubMed:17438221, ECO:0000269|PubMed:24103481, ECO:0000269|PubMed:7522741, ECO:0000269|PubMed:8012387, ECO:0000269|PubMed:8780101, ECO:0000269|PubMed:8956049, ECO:0000269|PubMed:9489796}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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.
Sequence Caution Sequence=AAA60350.1; Type=Miscellaneous discrepancy; Note=The submitted sequence only contains the last exon but the authors annotated a CDS including all exons of that gene.; Evidence= ; Sequence=AAD13880.1; Type=Erroneous gene model prediction; Evidence= ;
Similarity Belongs to the myelin proteolipid protein family
Subcellular Location Cell membrane ; Multi-pass membrane protein Myelin membrane Note=Colocalizes with SIRT2 in internodal regions, at paranodal axoglial junction and Schmidt-Lanterman incisures of myelin sheat
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