ABCB6 gene


Gene (OMIM No.)
Function of gene/protein
  • Protein: ATP-binding casette, subfamily B member 6
  • Transports molecules, specifically porphyrins, across cellular membranes (including the outer mitochondrial membrane)
Clinical phenotype
(OMIM phenotype no.)
  • Blood group, Langereis system (#111600)
  • Dyschromatosis universalis hereditaria 3 (#615402)
  • Microphthalmia, isolated, with coloboma 7 (#614497)
  • Pseudohyperkalemia, familial 2, due to red cell leak (#609153)
  • Autosomal dominant
Ocular features
Systemic featuresMicrophthalmia, isolated, with coloboma 7:
  • No extraocular anomalies reported
Key investigations
  • B-scan USS to measure axial length to document microphthalmia
  • Electrophysiology
  • MRI brain and orbit
  • Systemic assessment with a paediatrician and other relevant specialists
Molecular diagnosisNext generation sequencing
  • Targeted gene panels (MAC)
  • Whole genome sequencing
Therapies under research
  • None at present
Further information

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  1.  Gore DM, Chetty MC, Fisher J, Nicolaou A, Stewart GW. Familial pseudohyperkalaemia Cardiff: a mild version of cryohydrocytosis. Br J Haematol. 2002;117(1):212‐214
  2.  Helias V, Saison C, Ballif BA, et al. ABCB6 is dispensable for erythropoiesis and specifies the new blood group system Langereis. Nat Genet. 2012;44(2):170‐173
  3.  Krishnamurthy PC, Du G, Fukuda Y, et al. Identification of a mammalian mitochondrial porphyrin transporter. Nature. 2006;443(7111):586‐589
  4.  Wang L, He F, Bu J, et al. ABCB6 mutations cause ocular coloboma [published correction appears in Am J Hum Genet. 2012 Aug 10;91(2):397. Zhen, Yuanli [added]; Li, Wei [added]; Wang, Lejing [corrected to Wang, Lejin]; Liu, Xiaqi [corrected to Liu, Xiaoqui]]. Am J Hum Genet. 2012;90(1):40‐48
  5.  Zhang C, Li D, Zhang J, et al. Mutations in ABCB6 cause dyschromatosis universalis hereditaria. J Invest Dermatol. 2013;133(9):2221‐2228

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Updated on November 30, 2020
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