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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]
[中文简述(自动翻译):]  这个基因编码的跨膜蛋白脂质蛋白是髓鞘的主要组分。所编码的蛋白质可能在压实,稳定化,和维护髓鞘少突胶质细胞在发展和轴突存活的作用,以及。突变该基因引起佩 - 梅病和痉挛性截瘫类型2中的多个转录物变体,包括DM20剪接变体可替代地剪接的结果。 [由RefSeq的,2015年2月提供]
PLP1基因(以及对应的蛋白质)的细胞分布位置:
PLP1基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
SPASTIC PARAPLEGIA 2, X-LINKED (disorder) | 0.56 | 10 | 5 | CLINVAR_CTD_human_MGD_ORPHANET_UNIPROT |
Pelizaeus-Merzbacher Disease | 0.497082245 | 147 | 14 | BeFree_CLINVAR_CTD_human_LHGDN_MGD_UNIPROT |
Pelizaeus-Merzbacher Disease, Atypical | 0.12 | 0 | 1 | CLINVAR |
Classic Pelizaeus-Merzbacher Disease | 0.12 | 0 | 0 | ORPHANET |
Pelizaeus-Merzbacher Disease, Transitional | 0.12 | 0 | 0 | ORPHANET |
Seizures | 0.080271442 | 3 | 0 | BeFree_RGD |
Hereditary X-Linked Recessive Spastic Paraplegia | 0.005971721 | 22 | 0 | BeFree |
Leukodystrophy | 0.005895776 | 13 | 0 | BeFree_GAD |
Paraplegia | 0.0054487 | 2 | 0 | LHGDN |
Schizophrenia | 0.00408156 | 5 | 0 | BeFree_LHGDN |
Cerebral Palsy | 0.003267234 | 2 | 0 | BeFree_LHGDN |
Inflammation | 0.00272435 | 1 | 0 | LHGDN |
Quadriplegia | 0.00272435 | 1 | 0 | LHGDN |
Multiple Sclerosis, Chronic Progressive | 0.00272435 | 1 | 0 | LHGDN |
Spastic Paraplegia | 0.001900093 | 7 | 0 | BeFree |
Experimental Autoimmune Encephalomyelitis | 0.001628651 | 6 | 0 | BeFree |
Nystagmus | 0.001085767 | 4 | 0 | BeFree |
Multiple Sclerosis | 0.000814326 | 3 | 0 | BeFree |
Muscle Spasticity | 0.000814326 | 3 | 0 | BeFree |
nervous system disorder | 0.000814326 | 3 | 0 | BeFree |
Spastic Paraplegia, Hereditary | 0.000814326 | 3 | 0 | BeFree |
Neurodegenerative Disorders | 0.000814326 | 3 | 0 | BeFree |
CNS disorder | 0.000542884 | 2 | 0 | BeFree |
Muscle hypotonia | 0.000542884 | 2 | 0 | BeFree |
Peripheral Neuropathy | 0.000542884 | 2 | 0 | BeFree |
Paraparesis, Spastic | 0.000542884 | 2 | 0 | BeFree |
Cerebral atrophy | 0.000542884 | 2 | 0 | BeFree |
Developmental delay (disorder) | 0.000542884 | 2 | 0 | BeFree |
Spastic | 0.000542884 | 2 | 0 | BeFree |
Major Depressive Disorder | 0.000542884 | 2 | 0 | BeFree |
Astrocytoma | 0.000271442 | 1 | 0 | BeFree |
Autistic Disorder | 0.000271442 | 1 | 0 | BeFree |
Cocaine Abuse | 0.000271442 | 1 | 0 | BeFree |
Presenile dementia | 0.000271442 | 1 | 0 | BeFree |
Demyelinating Diseases | 0.000271442 | 1 | 0 | BeFree |
Hypophosphatasia | 0.000271442 | 1 | 0 | BeFree |
Kidney Failure, Chronic | 0.000271442 | 1 | 0 | BeFree |
Protein Deficiency | 0.000271442 | 1 | 0 | BeFree |
Henoch-Schoenlein Purpura | 0.000271442 | 1 | 0 | BeFree |
Shy-Drager Syndrome | 0.000271442 | 1 | 0 | BeFree |
Unipolar Depression | 0.000271442 | 1 | 0 | BeFree |
Lysosomal Storage Diseases | 0.000271442 | 1 | 0 | BeFree |
X-linked agammaglobulinemia | 0.000271442 | 1 | 0 | BeFree |
Primary hyperoxaluria, type I | 0.000271442 | 1 | 0 | BeFree |
Axonal neuropathy | 0.000271442 | 1 | 0 | BeFree |
Peripheral demyelinating neuropathy | 0.000271442 | 1 | 1 | BeFree |
Pendular Nystagmus | 0.000271442 | 1 | 0 | BeFree |
Multiple System Atrophy | 0.000271442 | 1 | 0 | BeFree |
Neuropathy | 0.000271442 | 1 | 0 | BeFree |
Dementia | 0.000271442 | 1 | 0 | BeFree |
Hyperhomocysteinemia | 0.000271442 | 1 | 0 | BeFree |
Multiple Sclerosis, Primary Progressive | 0.000271442 | 1 | 0 | BeFree |
Multiple Sclerosis, Relapsing-Remitting | 0.000271442 | 1 | 0 | BeFree |
Peripheral axonal neuropathy | 0.000271442 | 1 | 0 | BeFree |
Urban Schosser Spohn syndrome | 0.000271442 | 1 | 0 | BeFree |
Non-Neoplastic Disorder | 0.000271442 | 1 | 0 | BeFree |
Lubs X-linked mental retardation syndrome | 0.000271442 | 1 | 0 | BeFree |
Spastic Ataxia | 0.000271442 | 1 | 0 | BeFree |
Chronic kidney disease stage 5 | 0.000271442 | 1 | 0 | BeFree |
Homocysteinemia | 0.000271442 | 1 | 0 | BeFree |
Isodicentric Chromosome 15 Syndrome | 0.000271442 | 1 | 0 | BeFree |
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