PMID: 24916532

Ahmadzadeh A, Azizi F
Genes associated with low serum high-density lipoprotein cholesterol.
Arch Iran Med. 2014 Jun;17(6):444-50. doi: 014176/AIM.0013., [PubMed]
Sentences
No. Mutations Sentence Comment
26 ABCA1 p.Pro85Leu
X
ABCA1 p.Pro85Leu 24916532:26:646
status: NEW
view ABCA1 p.Pro85Leu details
 Homozygosity and heterozygosity mutations in this gene have been associated with Tangier disease, an autosomal-recessive disorder characterized by deposition of cholesterol esters in organs, and familial high-density lipoprotein GH&#bf;FLHQF\UHVSHFWLYHO\28,29 /RZFHOOXODUFKROHVWHUROHI&#c0;X[GXHWR mutant ABCA1 leads to reduced apolipoprotein A-I stability and rapid catabolism of HDL-C.30 Over 90 structural variants have been known to cause low HDL-C, most of which are in coding areas, whereas only a few are located in intronic regions31,32 ; e.g., a single defective allele in exon 4 ABCA1 at C254T changing a proline to a leucine (P85L) may be associated with low HDL-C.33 Lecithin cholesteryl acyl transferase LCAT (16q22.1), a member of the lipase superfamily, is a plasma enzyme synthesized by the liver and the small intestine. Login to comment