Medical Knowledge Cockpit achondrogenesis

SLC26A2

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

TRIP11

• GMAP-210, A cis-Golgi network-associated protein, is a minus end microtubule-binding protein

COL2A1

• Structurally abnormal type II collagen in a severe form of Kniest dysplasia caused by an exon 24 skipping mutation
• Small deletions in the type II collagen triple helix produce kniest dysplasia

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

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TRIP11

Somatic tumors

AML

Tumor types germline

Cancer Syndrom

Translocation partner

PDGFRB

Name

thyroid hormone receptor interactor 11

Chromosome banding

14q31-q32

Cancer molecular gen.

Dom

Mutation type

T

Other syndrome disease