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FLASH GENE
Symbol AHSP contributors: mct/pgu - updated : 01-09-2010
HGNC name alpha hemoglobin stabilising protein
HGNC id 18075
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
Homologene
FAMILY
  • AHSP family
  • CATEGORY chaperone/stress
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    basic FUNCTION
  • abundant, erythroid-specific protein that forms a stable complex with free alpha-haemoglobin but not with beta-haemoglobin or haemoglobin A (alpha(2)beta(2))
  • required for normal erythropoiesis, probably acting to block the deleterious effects of free alpha-haemoglobin precipitation
  • acts as a molecular chaperone to stabilize nascent alpha-globin for HbA assembly
  • potential modifier of beta-thalassemia by virtue of its ability to detoxify excess free alpha-globin
  • inhibits cellular production of the reactive oxygen species
  • reversibly binds nascent alpha globin to maintain its native structure and facilitate its incorporation into hemoglobin A
  • promotes alpha globin chain stability during human erythropoiesis
  • may function as an alpha globin -specific chaperone, and suggest an important role for nascent alpha chain in guiding Hb assembly by stabilizing nascent beta chain and inhibiting off-pathway self-association of beta-haem
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • forming an heterodimer with free alpha-hemoglobin
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binds specifically to alpha-hemoglobin (alpha-Hb) subunits acting as a chaperone protein
  • cell & other
    REGULATION
    Other regulated by iron (iron regulates the expression of AHSP, a molecular chaperone that binds and stabilizes free alpha-globin during hemoglobin synthesis)
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    in the HELLP syndrome group
    constitutional     --low  
    in the intrauterine fetal death group compared with controls
    constitutional     --low  
    reduced AHSP may identify women at risk of experiencing further miscarriages
    constitutional     --low  
    can result in hematological pathology
    Susceptibility
    Variant & Polymorphism SNP 12391 G>A SNP is common and represents a potential mechanism through which genetically determined variations in AHSP expression could influence beta-thalassemia
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS