View LDLR gene homepage

General information
Gene symbol LDLR
Gene name low density lipoprotein receptor
Chromosome 19
Chromosomal band p13.2
Imprinted Not imprinted
Genomic reference LRG_274
Transcript reference NM_000527.4, NM_001195798.1, NM_001195799.1, NM_001195800.1, NM_001195803.1, XM_011528010.1, XM_011528011.1, XR_244074.2
Associated with diseases FH
Citation reference(s) Miltiadous et al. (2001), Xenophontos et al. (2000), Cariolou et al. (1998)
Curators (3) Savvas Nikolaou, Carsten W Lederer and Anastasia Raoukka
Total number of public variants reported 0
Unique public DNA variants reported 0
Individuals with public variants 0
Hidden variants 0
Date created June 16, 2016
Date last updated June 23, 2016
Version LDLR:160623

Links to other resources
External URL http://www.ucl.ac.uk/ldlr/Current/index.php?select_db=LDLR
HGNC 6547
Entrez Gene 3949
PubMed articles LDLR
OMIM - Gene 606945
OMIM - Diseases FH (Familial Hypercholesterolemia)
HGMD LDLR
GeneCards LDLR
GeneTests LDLR


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000151 19 transcript variant 1 NM_000527.4 NP_000518.1 0
00000152 19 transcript variant 2 NM_001195798.1 NP_001182727.1 0
00000153 19 transcript variant 3 NM_001195799.1 NP_001182728.1 0
00000154 19 transcript variant 4 NM_001195800.1 NP_001182729.1 0
00000155 19 transcript variant 6 NM_001195803.1 NP_001182732.1 0
00000156 19 transcript variant X1 XM_011528010.1 XP_011526312.1 0
00000157 19 transcript variant X2 XM_011528011.1 XP_011526313.1 0
00000158 19 transcript variant X3 XR_244074.2 - 0


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