PMID- 10570919
OWN - NLM
STAT- MEDLINE
DCOM- 20000127
LR  - 20061115
IS  - 1434-5161 (Print)
IS  - 1434-5161 (Linking)
VI  - 44
IP  - 6
DP  - 1999
TI  - A common Ile796Val polymorphism of the human SREBP cleavage-activating protein
      (SCAP) gene.
PG  - 421-2
AB  - We identified a new common amino acid polymorphism of isoleucine/valine at codon 
      796 in exon 16 of the gene for human sterol regulatory element binding protein
      (SREBP) cleavage-activating protein (SCAP), a central regulator of lipid
      synthesis and metabolism in animal cells. It can be detected as an MslI
      restriction fragment length polymorphism. The allelic frequencies were:
      isoleucine (A) allele, 0.57 and valine (G) allele, 0.43. This polymorphism may be
      useful for genetic studies of disorders affecting intracellular lipid metabolism 
      and hyperlipidemia.
FAU - Iwaki, K
AU  - Iwaki K
AD  - Department of Molecular Biology, Nippon Medical School, Kawasaki, Japan.
FAU - Nakajima, T
AU  - Nakajima T
FAU - Ota, N
AU  - Ota N
FAU - Emi, M
AU  - Emi M
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - J Hum Genet
JT  - Journal of human genetics
JID - 9808008
RN  - 0 (Intracellular Signaling Peptides and Proteins)
RN  - 0 (Membrane Proteins)
RN  - 0 (SREBP cleavage-activating protein)
SB  - IM
MH  - Humans
MH  - Hyperlipidemias/genetics
MH  - Intracellular Signaling Peptides and Proteins
MH  - Lipid Metabolism
MH  - Membrane Proteins/*genetics
MH  - *Polymorphism, Single Nucleotide
EDAT- 1999/11/26 00:00
MHDA- 1999/11/26 00:01
CRDT- 1999/11/26 00:00
PHST- 1999/11/26 00:00 [pubmed]
PHST- 1999/11/26 00:01 [medline]
PHST- 1999/11/26 00:00 [entrez]
AID - 10.1007/s100380050193 [doi]
PST - ppublish
SO  - J Hum Genet. 1999;44(6):421-2. doi: 10.1007/s100380050193.