KEGG   DISEASE: H00159Help
Entry
H00159                      Disease                                

Name
Tangier disease
Description
Tangier disease is an autosomal recessive disorder caused by mutation of ABCA1 gene leading to the accumulation of cholesterol in tissue macrophages and prevalent atherosclerosis.
Category
Inherited metabolic disease; Nervous system disease
BRITE hierarchy
Pathway
ABC transporters
Gene
ABCA1 [HSA:19] [KO:K05641]
Other DBs
ICD-10: 
OMIM: 
Reference
  Authors
Nofer JR, Remaley AT
  Title
Tangier disease: still more questions than answers.
  Journal
Cell Mol Life Sci 62:2150-60 (2005)
Reference
  Authors
Oram JF
  Title
Molecular basis of cholesterol homeostasis: lessons from Tangier disease and ABCA1.
  Journal
Trends Mol Med 8:168-73 (2002)
Reference
  Authors
Oram JF
  Title
Tangier disease and ABCA1.
  Journal
Biochim Biophys Acta 1529:321-30 (2000)

» Japanese version

DBGET integrated database retrieval system