Gene: ABCB6

Alternate names for this Gene: ABC|LAN|MTABC3|PRP|umat

Gene Summary: This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. ABC proteins transport various molecules across extra- and intra-cellular membranes. This protein is a member of the heavy metal importer subfamily and plays a role in porphyrin transport. This gene is the molecular basis of the Langereis (Lan) blood group antigen and mutations in this gene underlie familial pseudohyperkalemia and dyschromatosis universalis hereditaria.

Gene is located in Chromosome: 2

Location in Chromosome : 2q35

Description of this Gene: ATP binding cassette subfamily B member 6 (Langereis blood group)

Type of Gene: protein-coding

rs397514756 in ABCB6 gene and DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3 PMID 24224009 2013 Novel mutations of ABCB6 associated with autosomal dominant dyschromatosis universalis hereditaria.

PMID 24498303 2014 Genome-wide linkage, exome sequencing and functional analyses identify ABCB6 as the pathogenic gene of dyschromatosis universalis hereditaria.

PMID 23519333 2013 Mutations in ABCB6 cause dyschromatosis universalis hereditaria.

PMID 25288164 2014 Novel missense mutations of ABCB6 in two chinese families with dyschromatosis universalis hereditaria.

rs387906911 in ABCB6 gene and MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7 PMID 22226084 2012 ABCB6 mutations cause ocular coloboma.

rs148211042 in ABCB6 gene and Pseudohyperkalemia, Familial, 2, due to Red Cell Leak PMID 23180570 2013 Missense mutations in the ABCB6 transporter cause dominant familial pseudohyperkalemia.

PMID 24947683 2014 Familial pseudohyperkalemia in blood donors: a novel mutation with implications for transfusion practice.

rs57467915 in ABCB6 gene and RDW - Red blood cell distribution width result PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs57467915 in ABCB6 gene and Red cell distribution width determination PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs57467915 in ABCB6 gene and Reticulocyte count (procedure) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.