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FLASH GENE
Symbol HOXA13 contributors: mct - updated : 28-03-2016
HGNC name homeo box A13
HGNC id 5102
ASSOCIATED DISORDERS
corresponding disease(s) HFG , GTMS
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional germinal mutation      
in hypodactyly mutants
tumoral fusion      
fused with NUP98 int (7;11) (p15;p15) in acute myeloid leukemia
constitutional       loss of function
severely disrupts embryonic limb development
Susceptibility
Variant & Polymorphism repeat polyalanine repeat expansion associated with HFG
Candidate gene
Marker
  • is a negative independent predictor of disease-free survival of patients with esophageal squamous cell carcinoma
  • Therapy target
    ANIMAL & CELL MODELS
  • defects in interdigital programmed cell death (IPCD) and digit separation in Hoxa13 mutant mice may be caused in part by reduced levels of retinoic acid
  • loss of Hoxa13 and Hoxd13 transcription factors (Hox13) leads to digit agenesis in mice