PMID- 10431236
OWN - NLM
STAT- MEDLINE
DCOM- 19990826
LR  - 20220330
IS  - 1061-4036 (Print)
IS  - 1061-4036 (Linking)
VI  - 22
IP  - 4
DP  - 1999 Aug
TI  - Mutations in ABC1 in Tangier disease and familial high-density lipoprotein 
      deficiency.
PG  - 336-45
AB  - Genes have a major role in the control of high-density lipoprotein (HDL) 
      cholesterol (HDL-C) levels. Here we have identified two Tangier disease (TD) 
      families, confirmed 9q31 linkage and refined the disease locus to a limited 
      genomic region containing the gene encoding the ATP-binding cassette transporter 
      (ABC1). Familial HDL deficiency (FHA) is a more frequent cause of low HDL levels. 
      On the basis of independent linkage and meiotic recombinants, we localized the 
      FHA locus to the same genomic region as the TD locus. Mutations in ABC1 were 
      detected in both TD and FHA, indicating that TD and FHA are allelic. This 
      indicates that the protein encoded by ABC1 is a key gatekeeper influencing 
      intracellular cholesterol transport, hence we have named it cholesterol efflux 
      regulatory protein (CERP).
FAU - Brooks-Wilson, A
AU  - Brooks-Wilson A
AD  - Xenon Bioresearch Inc., NRC Innovation Centre, Vancouver, British Columbia, 
      Canada.
FAU - Marcil, M
AU  - Marcil M
FAU - Clee, S M
AU  - Clee SM
FAU - Zhang, L H
AU  - Zhang LH
FAU - Roomp, K
AU  - Roomp K
FAU - van Dam, M
AU  - van Dam M
FAU - Yu, L
AU  - Yu L
FAU - Brewer, C
AU  - Brewer C
FAU - Collins, J A
AU  - Collins JA
FAU - Molhuizen, H O
AU  - Molhuizen HO
FAU - Loubser, O
AU  - Loubser O
FAU - Ouelette, B F
AU  - Ouelette BF
FAU - Fichter, K
AU  - Fichter K
FAU - Ashbourne-Excoffon, K J
AU  - Ashbourne-Excoffon KJ
FAU - Sensen, C W
AU  - Sensen CW
FAU - Scherer, S
AU  - Scherer S
FAU - Mott, S
AU  - Mott S
FAU - Denis, M
AU  - Denis M
FAU - Martindale, D
AU  - Martindale D
FAU - Frohlich, J
AU  - Frohlich J
FAU - Morgan, K
AU  - Morgan K
FAU - Koop, B
AU  - Koop B
FAU - Pimstone, S
AU  - Pimstone S
FAU - Kastelein, J J
AU  - Kastelein JJ
FAU - Genest, J Jr
AU  - Genest J Jr
FAU - Hayden, M R
AU  - Hayden MR
LA  - eng
SI  - GENBANK/AJ012376
SI  - GENBANK/X75926
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Nat Genet
JT  - Nature genetics
JID - 9216904
RN  - 0 (ABCA1 protein, human)
RN  - 0 (ATP Binding Cassette Transporter 1)
RN  - 0 (ATP-Binding Cassette Transporters)
RN  - 0 (Cholesterol, HDL)
RN  - 0 (Genetic Markers)
RN  - 0 (Glycoproteins)
SB  - IM
CIN - Nat Genet. 1999 Aug;22(4):316-8. PMID: 10431227
MH  - ATP Binding Cassette Transporter 1
MH  - ATP-Binding Cassette Transporters/*genetics/metabolism
MH  - Adult
MH  - Amino Acid Sequence
MH  - Base Sequence
MH  - Cholesterol, HDL/*deficiency
MH  - Chromosomes, Human, Pair 9
MH  - Female
MH  - Genetic Linkage
MH  - Genetic Markers
MH  - Glycoproteins/*genetics/metabolism
MH  - Humans
MH  - Male
MH  - Models, Genetic
MH  - Molecular Sequence Data
MH  - *Mutation
MH  - Pedigree
MH  - Physical Chromosome Mapping
MH  - Sequence Homology, Amino Acid
MH  - Tangier Disease/*genetics
EDAT- 1999/08/04 10:00
MHDA- 2001/03/23 10:01
CRDT- 1999/08/04 10:00
PHST- 1999/08/04 10:00 [pubmed]
PHST- 2001/03/23 10:01 [medline]
PHST- 1999/08/04 10:00 [entrez]
AID - 10.1038/11905 [doi]
PST - ppublish
SO  - Nat Genet. 1999 Aug;22(4):336-45. doi: 10.1038/11905.