ABCB6 gene

Overview

Gene (OMIM No.)	ABCB6 (#605452)
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)
Inheritance	Autosomal dominant
Ocular features	Microphthalmia, anophthalmia, coloboma (MAC) spectrum
Systemic features	Microphthalmia, 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 diagnosis	Next generation sequencing Targeted gene panels (MAC) Whole genome sequencing
Management	Ocular Management of MAC
Therapies under research	None at present
Further information	OMIM

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
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
Krishnamurthy PC, Du G, Fukuda Y, et al. Identification of a mammalian mitochondrial porphyrin transporter. Nature. 2006;443(7111):586‐589
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
Zhang C, Li D, Zhang J, et al. Mutations in ABCB6 cause dyschromatosis universalis hereditaria. J Invest Dermatol. 2013;133(9):2221‐2228

Updated on November 30, 2020