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FLASH GENE
Symbol MAP3K7 contributors: mct/shn - updated : 08-12-2019
HGNC name mitogen-activated protein kinase kinase kinase 7
HGNC id 6859
ASSOCIATED DISORDERS
corresponding disease(s) FMTD2 , CSCF
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional   deletion    
causes dysregulation of reactive oxygen species in keratinocytes, which is causally associated with skin inflammation
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
SystemTypeDisorderPubmed
cancerdigestivecolon
MAP3K7 inhibition is a potential therapeutic strategy for a treatment-refractory subset of colon cancers exhibiting aberrant KRAS and Wnt pathway activation
ANIMAL & CELL MODELS
  • TAK1-deficient mous embryonic fibroblasts demonstrated loss of responses to interleukin 1beta and tumor necrosis factor (
  • antigen-induced immune responses were considerably impaired in mice with B cell-specific TAK1 deficiency (
  • deletion of TAK1 in mouse T cells prevented the maturation of single-positive thymocytes displaying CD4 or CD8, leading to reduction of T cells in the peripheral tissues (
  • TAK1 deficiency in keratinocytes led to increased apoptosis in response to anoikis and TNF-&
  • 945; treatment and was associated with elevated ROS level (
  • epithelial-specific TAB1 and TAB2 double- but not TAB1 or TAB2 single-knockout mice phenocopied epithelial-specific TAK1 knockout mice
  • Ablation of both TAB1 and TAB2 diminished the activity of TAK1 in vivo and causes accumulation of ROS in the epithelial tissues
  • homozygous Tak1-deficient mice died early in embryonic development, at day 9.5