Medical Knowledge Cockpit achondrogenesis

SLC26A2

• The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping

TRIP11

• A thyroid hormone receptor coactivator negatively regulated by the retinoblastoma protein

COL2A1

• Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type
• A glycine to aspartic acid substitution of COL2A1 in a family with the Strudwick variant of spondyloepimetaphyseal dysplasia

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

• ECM-receptor interaction
  Homo sapiens (human) one gene

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