Aliases for AHSP Gene
External Ids for AHSP Gene
Previous HGNC Symbols for AHSP Gene
Previous GeneCards Identifiers for AHSP Gene
This gene encodes a molecular chaperone which binds specifically to free alpha-globin and is involved in hemoglobin assembly. The encoded protein binds to monomeric alpha-globin until it has been transferred to beta-globin to form a heterodimer, which in turn binds to another heterodimer to form the stable tetrameric hemoglobin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
GeneCards Summary for AHSP Gene
AHSP (Alpha Hemoglobin Stabilizing Protein) is a Protein Coding gene. Diseases associated with AHSP include thalassemia and anal fistula. GO annotations related to this gene include unfolded protein binding and hemoglobin binding.
UniProtKB/Swiss-Prot for AHSP Gene
Acts as a chaperone to prevent the harmful aggregation of alpha-hemoglobin during normal erythroid cell development. Specifically protects free alpha-hemoglobin from precipitation. It is predicted to modulate pathological states of alpha-hemoglobin excess such as beta-thalassemia.