Symbol
| HOXA13
| contributors: mct - updated : 28-03-2016
|
HGNC name
| homeo box A13
|
HGNC id
| 5102
|
corresponding disease(s)
|
HFG
, GTMS
|
Other morbid association(s)
|
Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein 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 | |
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
| | |
| 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 |