Medical Knowledge Cockpit osteoarthritis

• PI3K-Akt signaling pathway
  Homo sapiens (human) one gene

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COL2A1

Somatic tumors

chondrosarcoma, enchondroma

Tumor types germline

Cancer Syndrom

Translocation partner

Name

collagen, type II, alpha 1

Chromosome banding

12q13.11

Cancer molecular gen.

Rec

Mutation type

F, Mis, N, T

Other syndrome disease

Spondyloepiphyseal Dysplasia Congenita, Achondrogenesis Type II, Stickler Syndrome, Type I and others

COL2A1

• Small deletions in the type II collagen triple helix produce kniest dysplasia
• A specific collagen type II gene (COL2A1) mutation presenting as spondyloperipheral dysplasia

ACAN

• Age-related changes in the content of the C-terminal region of aggrecan in human articular cartilage
• Species-specific alternative splicing of the epidermal growth factor-like domain 1 of cartilage aggrecan
• Secreted chondroitin sulfate proteoglycan of human B cell lines binds to the complement protein C1q and inhibits complex formation of C1

MATN3

• Matrilin-3 from chicken cartilage

ASPN

• Replication of the association of the aspartic acid repeat polymorphism in the asporin gene with knee-osteoarthritis susceptibility in Han Chinese

GDF5

• Disruption of human limb morphogenesis by a dominant negative mutation in CDMP1