ABCB6 ATP binding cassette subfamily B member 6 (LAN blood group)

Gene ID: 10058, updated on 2-Nov-2024
Gene type: protein coding
Also known as: ABC; LAN; PRP; umat; MTABC3

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. [provided by RefSeq, Mar 2017]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Dyschromatosis universalis hereditaria 3 MedGen: C3809394OMIM: 615402GeneReviews: Not available	See labs
Familial pseudohyperkalemia MedGen: C1836705OMIM: 609153GeneReviews: Not available	See labs
Langereis blood group MedGen: C3276339OMIM: 111600GeneReviews: Not available	See labs
Microphthalmia, isolated, with coloboma 7 MedGen: C3281027OMIM: 614497GeneReviews: Not available	See labs

Genomic context

Location:: 2q35

Sequence:: Chromosome: 2; NC_000002.12 (219209772..219218958, complement)

Total number of exons:: 19

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for ABCB6 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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