Medical Knowledge Cockpit piebaldism

KIT

• Direct association of Csk homologous kinase (CHK) with the diphosphorylated site Tyr568/570 of the activated c-KIT in megakaryocytes
• The direct association of the multiple PDZ domain containing proteins (MUPP-1) with the human c-Kit C-terminus is regulated by tyrosine kinase activity
• Tyrosine residue 719 of the c-kit receptor is essential for binding of the P85 subunit of phosphatidylinositol (PI) 3-kinase and for c-kit-associated PI 3-kinase activity in COS-1 cells
• The ubiquitously expressed Syp phosphatase interacts with c-kit and Grb2 in hematopoietic cells

SNAI2

• The zinc-finger protein slug causes desmosome dissociation, an initial and necessary step for growth factor-induced epithelial-mesenchymal transition
• Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library
• Human transcription factor SLUG: mutation analysis in patients with neural tube defects and identification of a missense mutation (D119E) in the Slug subfamily-defining region

KIT

Somatic tumors

GIST, AML, TGCT, mastocytosis, mucosal melanoma

Tumor types germline

GIST, epithelioma

Cancer Syndrom

familial gastrointestinal stromal tumour

Translocation partner

Name

v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog

Chromosome banding

4q12

Cancer molecular gen.

Dom

Mutation type

Mis, O

Other syndrome disease

Piebald trait

• Acute myeloid leukemia
  Homo sapiens (human) one gene

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