Skip to content
Use your HSA or FSA funds

Gene

ABCC6

ATP binding cassette subfamily C member 6

Summary

Cytogenetic location
16p13.11
Coordinates
Chromosome 16: 16,149,565–16,223,494 (GRCh38)
Exons
31 exons across 73.9 kb
Protein
1,503 amino acids
Inheritance
Autosomal recessive
Also known as
MRP6, EST349056, MLP1, URG7
Previous symbols
ARA, PXE
MANE Select transcript
ENST00000205557.12NM_001171.6
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

  • Hereditary Arterial Calcification

    • Generalised Arterial Calcification of InfancyAutosomal recessive

      Severe calcification and narrowing of large and medium arteries starting before or soon after birth, caused by changes in ENPP1 or ABCC6.

      • 2 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing about it supports early specialist care and informs carrier and reproductive counselling.

  • Pseudoxanthoma Elasticum

    • Autosomal recessive

      Calcification of elastic fibres caused by ABCC6 variants, affecting skin, the retina (angioid streaks) and arteries.

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

      Regular eye checks allow early anti-VEGF treatment of retinal bleeding; arterial disease and gastrointestinal bleeding are monitored, and contact sports are best avoided.

Inheritance

Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How ABCC6 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 16, with a bracket where ABCC6 sits. ABCC6 and 7 genes near it on chromosome 16, from 15,686,530 to 16,686,529.Chromosome 1616p13.11p13.3p13.2p13.13p13.12p13.11p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12.1q12.2q13q21q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.315.8 Mb16 Mb16.2 Mb16.4 Mb16.6 MbNDE1: 15,643,267–15,734,691, forward strandNDE1MYH11: 15,703,135–15,858,438, reverse strandMYH11CEP20: 15,865,719–15,888,644, reverse strandCEP20ABCC1: 15,949,138–16,143,257, forward strandABCC1ABCC6: 16,149,565–16,223,494, reverse strandABCC6NOMO3: 16,232,506–16,300,806, forward strandNOMO3NPIPA6: 16,317,444–16,350,608, forward strandNPIPA6NPIPA7: 16,371,207–16,393,972, forward strandNPIPA7Diagram of ABCC6: 31 exons on the reverse strand of chromosome 16Exon 31: 1 known disease-causing siteExon 30: 4 known disease-causing sitesExon 29: 5 known disease-causing sitesExon 28: 13 known disease-causing sitesExon 27: 4 known disease-causing sitesExon 26: 5 known disease-causing sitesExon 25: 3 known disease-causing sitesExon 24: 11 known disease-causing sitesExon 23: 2 known disease-causing sitesExon 22: 7 known disease-causing sitesExon 21: 1 known disease-causing siteExon 19: 7 known disease-causing sitesExon 18: 10 known disease-causing sitesExon 17: 4 known disease-causing sitesExon 16: 4 known disease-causing sitesExon 15: 1 known disease-causing siteExon 14: 2 known disease-causing sitesExon 13: 3 known disease-causing sitesExon 12: 5 known disease-causing sitesExon 10: 3 known disease-causing sitesExon 9: 5 known disease-causing sitesExon 8: 3 known disease-causing sitesExon 7: 1 known disease-causing siteExon 3: 1 known disease-causing siteExon 2: 4 known disease-causing sitesExon 31: 16,149,565–16,150,241, 677 basesExon 30: 16,150,578–16,150,772, 195 basesExon 29: 16,154,628–16,154,794, 167 basesExon 28: 16,154,873–16,155,031, 159 basesExon 27: 16,157,663–16,157,809, 147 basesExon 26: 16,159,482–16,159,583, 102 basesExon 25: 16,161,438–16,161,564, 127 basesExon 24: 16,162,993–16,163,192, 200 basesExon 23: 16,165,623–16,165,933, 311 basesExon 22: 16,169,646–16,169,853, 208 basesExon 21: 16,173,284–16,173,404, 121 basesExon 20: 16,175,911–16,175,986, 76 basesExon 19: 16,177,452–16,177,626, 175 basesExon 18: 16,178,798–16,178,965, 168 basesExon 17: 16,182,412–16,182,588, 177 basesExon 16: 16,182,804–16,182,930, 127 basesExon 15: 16,184,959–16,185,034, 76 basesExon 14: 16,187,124–16,187,211, 88 basesExon 13: 16,188,831–16,188,974, 144 basesExon 12: 16,190,164–16,190,367, 204 basesExon 11: 16,192,830–16,192,922, 93 basesExon 10: 16,198,021–16,198,182, 162 basesExon 9: 16,202,001–16,202,178, 178 basesExon 8: 16,203,410–16,203,613, 204 basesExon 7: 16,208,728–16,208,859, 132 basesExon 6: 16,212,185–16,212,246, 62 basesExon 5: 16,214,324–16,214,449, 126 basesExon 4: 16,219,554–16,219,682, 129 basesExon 3: 16,219,822–16,219,947, 126 basesExon 2: 16,221,649–16,221,831, 183 basesExon 1: 16,223,399–16,223,494, 96 bases312015′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 5.1 kb of the gene's 73.9 kb; 4,512 of those bases code for the protein.

How a genome test reads ABCC6

126

positions in ABCC6 where ClinVar classes a change as pathogenic or likely pathogenic

20 of them (16%) fall in regions short reads find hard.

  • Low mappability (20 sites)Regions where 100 bp or 250 bp reads cannot be placed uniquely.
  • Segmental duplications (20 sites)Copies of at least 1 kb sharing at least 90% identity with another part of the genome (paralogues, pseudogenes); reads may align to the wrong copy.

A whole genome covers all 73.9 kb of ABCC6, introns included, not only the 5.1 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.). ABCC6 gene: ATP binding cassette subfamily C member 6. Retrieved 17 October 2026, from https://dantelabs.com/genes/abcc6

Vancouver

Dante Labs. ABCC6 gene: ATP binding cassette subfamily C member 6 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/abcc6

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test