Disease-gene associations mined from literature

Literature associating HSPB1 and Alexander disease

HSPB1 [ENSP00000248553]

Heat shock protein beta-1; Small heat shock protein which functions as a molecular chaperone probably maintaining denatured proteins in a folding- competent state . Plays a role in stress resistance and actin organization . Through its molecular chaperone activity may regulate numerous biological processes including the phosphorylation and the axonal transport of neurofilament proteins . ECO:0000269|PubMed:19166925, ECO:0000269|PubMed:20178975,

Synonyms:  HSPB1,  HSPB1p,  hHSPB1,  C9J3N8,  F8WE04 ...

Linkouts:  STRING  Pharos  UniProt  OMIM