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low-density lipoprotein [LDL] receptor gene

19p13.3 Structure: - gene contains cassette of 8 exons also found in gene for EGF Pathology: - defects in the gene found in type-2 hyperlipoproteinemia

Related

hyperlipoproteinemia type 2 (familial hypercholesterolemia) low-density lipoprotein receptor; LDL receptor; apoB/E receptor (LDLR)

General

gene with TATA box

Properties

TEMPLATE-FOR: messenger RNA TEMPLATE-FOR: low-density lipoprotein receptor LOCUS: human chromosome-19 P13.1-13.2 MOTIF: SP1-binding site SITE: -90 FOR-BINDING-OF: transcription factor Sp1 MOTIF-SEQUENCE: ACTCCCCTC sterol regulatory element-1 (SRE-1) SITE: -53 FOR-BINDING-OF: sterol regulatory element-binding protein 1 MOTIF-SEQUENCE: CACCCCAC SP1-binding site SITE: -40 FOR-BINDING-OF: transcription factor Sp1 MOTIF-SEQUENCE: ACTCCTCCCC TATA box NAME: TATA box transcriptional start site exon (18) intron (17) transcriptional termination site

Database Correlations

OMIM 142890 Entrez Gene 3949

References

  1. OMIM :accession 142890
  2. Sudhoff et al Science 228:893 1985
  3. Vallett SM et al A direct role for sterol regulatory element binding protein in activation of 3-hydroxy-3-methylglutaryl coenzyme A reductase gene. J Biol Chem. 1996 May 24;271(21):12247-53. PMID: 8647822
  4. Medical Knowledge Self Assessment Program (MKSAP) 11, American College of Physicians, Philadelphia 1998