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This gene is a member of the aggrecan/versican proteoglycan family. The encoded protein is an integral part of the extracellular matrix in cartilagenous tissue and it withstands compression in cartilage. Mutations in this gene may be involved in skeletal dysplasia and spinal degeneration. Multiple alternatively spliced transcript variants that encode different protein isoforms have been observed in this gene. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  此基因是聚集蛋白聚糖/聚糖蛋白聚糖家族的一个成员。所编码的蛋白质是在的软骨组织的细胞外基质的一个组成部分,它在软骨承受压缩。在这个基因的突变可能参与了骨骼发育不良和脊髓变性。编码不同蛋白同种型的多个可变剪接转录物变体在该基因被观察到。 [由RefSeq的,2008年7月提供]
ACAN基因(以及对应的蛋白质)的细胞分布位置:
ACAN基因的本体(GO)信息:
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 | 
| Spondyloepimetaphyseal Dysplasia, Aggrecan Type | 0.48 | 1 | 1 | CLINVAR_CTD_human_ORPHANET_UNIPROT | 
| Familial Osteochondritis Dissecans | 0.360271442 | 1 | 0 | BeFree_CTD_human_ORPHANET_UNIPROT | 
| Spondyloepiphyseal Dysplasia, Kimberley Type | 0.36 | 0 | 1 | CLINVAR_CTD_human_ORPHANET | 
| Rheumatoid Arthritis | 0.128077243 | 12 | 0 | BeFree_CTD_human_GAD_LHGDN | 
| Osteochondritis Dissecans | 0.12 | 0 | 1 | CLINVAR | 
| Pneumoconiosis | 0.12 | 1 | 0 | CTD_human | 
| Muscular Dystrophy, Facioscapulohumeral | 0.12 | 1 | 0 | CTD_human | 
| Infant length | 0.12 | 1 | 1 | GWASCAT | 
| Intervertebral Disc Degeneration | 0.086981544 | 18 | 0 | BeFree_GAD_RGD | 
| Degenerative polyarthritis | 0.014396351 | 43 | 0 | BeFree_LHGDN | 
| Intervertebral Disk Displacement | 0.007101096 | 3 | 0 | GAD | 
| Scoliosis, unspecified | 0.005362824 | 1 | 0 | BeFree_GAD_LHGDN | 
| Tropical Spastic Paraparesis | 0.002995792 | 1 | 0 | BeFree_LHGDN | 
| Progeria | 0.002995792 | 1 | 0 | BeFree_LHGDN | 
| Osteochondrodysplasias | 0.00272435 | 1 | 0 | LHGDN | 
| Schizophrenia | 0.00272435 | 1 | 0 | LHGDN | 
| Degeneration of lumbar intervertebral disc | 0.002638474 | 2 | 0 | BeFree_GAD | 
| Alzheimer's Disease | 0.002367032 | 1 | 0 | GAD | 
| Congenital pectus excavatum | 0.002367032 | 1 | 0 | GAD | 
| Low Back Pain | 0.002367032 | 1 | 0 | GAD | 
| Occupational Diseases | 0.002367032 | 1 | 0 | GAD | 
| Tobacco Use Disorder | 0.002367032 | 1 | 0 | GAD | 
| Diabetes Mellitus, Insulin-Dependent | 0.001357209 | 5 | 3 | BeFree | 
| Arthritis | 0.001085767 | 4 | 0 | BeFree | 
| Dwarfism | 0.001085767 | 4 | 0 | BeFree | 
| Polyarthritis | 0.001085767 | 4 | 0 | BeFree | 
| Collagenopathy, type 2 alpha 1 | 0.000814326 | 3 | 0 | BeFree | 
| Autistic Disorder | 0.000542884 | 2 | 0 | BeFree | 
| Chondrosarcoma | 0.000542884 | 2 | 0 | BeFree | 
| Hernia | 0.000542884 | 2 | 0 | BeFree | 
| Arthropathy | 0.000542884 | 2 | 0 | BeFree | 
| Obesity | 0.000542884 | 2 | 0 | BeFree | 
| Pain | 0.000542884 | 2 | 0 | BeFree | 
| Spondylitis | 0.000542884 | 2 | 0 | BeFree | 
| Spondyloepiphyseal Dysplasia | 0.000542884 | 2 | 0 | BeFree | 
| Osteoarthritis of the hand | 0.000542884 | 2 | 0 | BeFree | 
| Severe myopia | 0.000542884 | 2 | 0 | BeFree | 
| Prolapsed lumbar disc | 0.000542884 | 2 | 0 | BeFree | 
| Osteoarthritis of distal interphalangeal joint | 0.000542884 | 2 | 0 | BeFree | 
| Skeletal dysplasia | 0.000542884 | 2 | 0 | BeFree | 
| Pseudoachondroplasia | 0.000542884 | 2 | 0 | BeFree | 
| Idiopathic scoliosis | 0.000542884 | 2 | 0 | BeFree | 
| Spondylarthropathies | 0.000542884 | 2 | 0 | BeFree | 
| Spondyloepiphyseal dysplasia, congenita | 0.000542884 | 2 | 0 | BeFree | 
| Kashin-Beck Disease | 0.000542884 | 2 | 0 | BeFree | 
| Achondroplasia | 0.000271442 | 1 | 0 | BeFree | 
| Amyloidosis | 0.000271442 | 1 | 0 | BeFree | 
| Arteriosclerosis | 0.000271442 | 1 | 0 | BeFree | 
| Atherosclerosis | 0.000271442 | 1 | 0 | BeFree | 
| Chordoma | 0.000271442 | 1 | 0 | BeFree | 
| Atrial Septal Defects | 0.000271442 | 1 | 0 | BeFree | 
| Micromelia | 0.000271442 | 1 | 0 | BeFree | 
| Multiple Epiphyseal Dysplasia | 0.000271442 | 1 | 0 | BeFree | 
| Seizures | 0.000271442 | 1 | 0 | BeFree | 
| Tumor Progression | 0.000271442 | 1 | 0 | BeFree | 
| Lumbar disc disease | 0.000271442 | 1 | 0 | BeFree | 
| Superficial ulcer | 0.000271442 | 1 | 0 | BeFree | 
| Osteoarthritis, Knee | 0.000271442 | 1 | 0 | BeFree | 
| Sacroiliitis | 0.000271442 | 1 | 0 | BeFree | 
| Carcinoma of larynx | 0.000271442 | 1 | 0 | BeFree | 
| Autism Spectrum Disorders | 0.000271442 | 1 | 0 | BeFree | 
| Tendinopathy | 0.000271442 | 1 | 0 | BeFree | 
| Tendinosis | 0.000271442 | 1 | 0 | BeFree | 
| dowling-degos disease | 0.000271442 | 1 | 0 | BeFree | 
| Disorder of Achilles tendon | 0.000271442 | 1 | 0 | BeFree | 
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