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Gene

LDLRAP1

low density lipoprotein receptor adaptor protein 1

Summary

Cytogenetic location
1p36.11
Coordinates
Chromosome 1: 25,543,606–25,568,886 (GRCh38)
Exons
9 exons across 25.3 kb
Protein
308 amino acids
Also known as
ARH, ARH2, FHCB1, FHCB2, MGC34705, DKFZp586D0624
MANE Select transcript
ENST00000374338.5NM_015627.3
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Familial Hypercholesterolemia

      • ClinGen rates the link definitive
      • 5 GenCC submitters rate it definitive or strong
      What knowing changes

      Statins, ezetimibe, PCSK9 inhibitors, bempedoic acid, inclisiran

  • Hyperlipidemia

      • ClinGen rates the link definitive
      • 5 GenCC submitters rate it definitive or strong

How LDLRAP1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 1, with a bracket where LDLRAP1 sits. LDLRAP1 and 17 genes near it on chromosome 1, from 25,056,246 to 26,056,245.Chromosome 11p36.11p36.33p36.32p36.31p36.23p36.22p36.21p36.13p36.12p36.11p35.3p35.2p35.1p34.3p34.2p34.1p33p32.3p32.2p32.1p31.3p31.2p31.1p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q21.1q21.2q21.3q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q31.1q31.2q31.3q32.1q32.2q32.3q41q42.11q42.12q42.13q42.2q42.3q43q4425.2 Mb25.4 Mb25.6 Mb25.8 Mb26 MbSYF2: 25,220,702–25,232,509, reverse strandSYF2RSRP1: 25,242,248–25,338,244, reverse strandRSRP1RHD: 25,272,393–25,330,445, forward strandRHDTMEM50A: 25,337,915–25,362,362, forward strandTMEM50ARHCE: 25,362,249–25,430,192, reverse strandRHCEMACO1: 25,430,853–25,500,209, forward strandMACO1LDLRAP1: 25,543,606–25,568,886, forward strandLDLRAP1MAN1C1: 25,616,788–25,786,206, forward strandMAN1C1SELENON: 25,800,180–25,818,221, forward strandSELENON: 25,811,470–25,823,744, forward strandMTFR1L: 25,818,640–25,835,879, forward strandMTFR1LAUNIP: 25,831,913–25,859,463, reverse strandAUNIPPAQR7: 25,861,211–25,875,968, reverse strandPAQR7STMN1: 25,884,181–25,908,470, reverse strandSTMN1PAFAH2: 25,959,767–25,999,206, reverse strandPAFAH2EXTL1: 26,019,884–26,036,464, forward strandEXTL1SLC30A2: 26,037,252–26,046,174, reverse strandSLC30A2TRIM63: 26,051,301–26,068,436, reverse strandTRIM63Diagram of LDLRAP1: 9 exons on the forward strand of chromosome 1Exon 1: 12 known disease-causing sitesExon 2: 9 known disease-causing sitesExon 3: 4 known disease-causing sitesExon 4: 6 known disease-causing sitesExon 5: 5 known disease-causing sitesExon 6: 9 known disease-causing sitesExon 7: 2 known disease-causing sitesExon 9: 1 known disease-causing siteExon 1: 25,543,606–25,543,786, 181 basesExon 2: 25,553,922–25,554,064, 143 basesExon 3: 25,554,860–25,554,972, 113 basesExon 4: 25,557,153–25,557,267, 115 basesExon 5: 25,562,644–25,562,716, 73 basesExon 6: 25,563,070–25,563,153, 84 basesExon 7: 25,563,661–25,563,791, 131 basesExon 8: 25,565,173–25,565,207, 35 basesExon 9: 25,566,848–25,568,886, 2,039 bases1234567895′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 2.9 kb of the gene's 25.3 kb; 927 of those bases code for the protein.

How a genome test reads LDLRAP1

59

positions in LDLRAP1 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 25.3 kb of LDLRAP1, introns included, not only the 2.9 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). LDLRAP1 gene: low density lipoprotein receptor adaptor protein 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/ldlrap1

Vancouver

Dante Labs. LDLRAP1 gene: low density lipoprotein receptor adaptor protein 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/ldlrap1

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