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FLASH GENE
Symbol HAX1 contributors: mct/pgu - updated : 21-02-2012
HGNC name HCLS1 associated protein X-1
HGNC id 16915
ASSOCIATED DISORDERS
corresponding disease(s) SCNP3
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein 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
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
ANIMAL & CELL MODELS
  • murine Hax1(-/-) B cells show a significantly reduced expression of CXCR4, which might have an influence on the observed defects in B-cell development