Symbol
| HAX1
| contributors: mct/pgu - updated : 23-12-2020
|
HGNC name
| HCLS1 associated protein X-1
|
HGNC id
| 16915
|
corresponding disease(s)
|
SCNP3
|
Other morbid association(s)
|
Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
---|
constitutional
|  
|  
| --over
|  
|
in lesional psoriatic skin | constitutional
|  
|  
| --over
|  
|
protects cardiac myocytes from apoptosis through caspase-9 inhibition | constitutional
|  
|  
| --over
|  
|
reduced sarcoplasmic reticulum Ca-ATPase (SERCA2) pump activity in isolated cardiomyocytes and leading to depressed myocyte calcium kinetics and mechanics | tumoral
|  
|  
| --over
|  
|
in hepatocellular carcinoma (HCC) | |
Variant & Polymorphism
|
| |
Candidate gene
Marker
| HAX1 can be a novel molecular marker for HCC | |
HAX1 could be considered as a potential biomarker of cardiac disease in FRDA | Therapy target
|
System | Type | Disorder | Pubmed |
cancer | | | |
is a potential therapeutic target for the treatment of cancer | cancer | digestive | liver | |
could be a potential therapeutic target for HCC treatment |
| | |
| murine Hax1(-/-) B cells show a significantly reduced expression of CXCR4, which might have an influence on the observed defects in B-cell development |