{"id":731,"system":{"id":33,"isbt_number":33,"name":"LAN","symbol":"LAN","category":"Blood Group System","approved":true,"version":2,"createdAt":"2024-04-29T09:32:34.867Z","updatedAt":"2025-09-24T11:10:16.935Z","description":"The LAN blood group system consists of one antigen, Lan, carried on a multipass membrane protein ATP binding cassette subfamily B member 6 (ABCB6) of 842 amino acids, encoded by the ABCB6 gene located on 2q35. ABCB6 is an ATP-dependent transporter of porphyrins (including heme) and is localized in the golgi apparatus, lysosomes, and plasma membranes.  The biologically active protein is a homodimer. ABCB6 is up regulated during erythroid maturation. Mutations in ABCB6 underlie Lan null and variant phenotypes and are associated with familial pseudohyperkalemia and dyschromatosis universalis hereditaria.","allele_notes":"","assignees":["Vanja Crew"]},"gene":{"id":39,"name":"ABCB6","isbt_gene":"NG_032110.1","isbt_transcript":"NM_005689.4","isbt_protein":"NP_005680.1","approved":true,"createdAt":"2024-04-29T09:33:17.767Z","updatedAt":"2024-05-06T16:34:47.557Z","version":1,"initiation_codon":null,"stop_codon":null,"entrez_id":10058,"chromosome":"2","hg19_start":220074487,"hg19_end":220085473,"hg38_start":219209771,"hg38_end":219218958,"exon_count":17},"reference_allele":false,"sv_allele":false,"null_allele":true,"mod_allele":false,"partial_allele":false,"weak_allele":false,"el_allele":false,"allele_order":null,"isbt_allele":"ABCB6*01N.32","alternate_names":null,"isbt_phenotype":"Lan-","isbt_snp":"c.1912C>T","table_row_group":null,"notes":null,"approved":true,"comment":null,"deleted":false,"obsolete":false,"provisional":false,"phenotypes":[{"id":6813,"phenotype":"-","approved":true,"predicted":true,"antigen":{"id":153,"isbt_code":"LAN1","isbt_number":1,"name":"Lan","display_name":"Lan","search_terms":["Lan","033001"],"antigen_order":null,"approved":true,"provisional":false,"compound":false,"multigene":false,"prevalence":"High Frequency","createdAt":"2024-04-29T09:40:51.702Z","updatedAt":"2025-09-24T11:10:17.060Z","version":2},"createdAt":"2024-04-29T09:56:09.446Z","updatedAt":"2024-04-29T09:56:09.446Z","version":1}],"variants":[{"id":362,"input":"NM_005689.4:c.1912C>T","note":null,"hgvs_transcript":"NM_005689.4:c.1912C>T","exon":"14","intron":null,"rsid":"rs761968111","hgvs_intronic_chr_context":null,"hgvs_intronic_rsg_context":null,"hgvs_refseqgene":"NG_032110.1:g.11548C>T","hgvs_lrg":"LRG_824:g.11548C>T","hgvs_lrg_transcript":null,"hgvs_predicted_protein":"NP_005680.1:p.(Arg638Cys)","hgvs_genomic_grch37":"NC_000002.11:g.220077165G>A","hgvs_genomic_grch38":"NC_000002.12:g.219212443G>A","grch37_chr":"2","grch37_pos":220077165,"grch37_ref":"G","grch37_alt":"A","grch38_chr":"2","grch38_pos":219212443,"grch38_ref":"G","grch38_alt":"A","freeform_dna_change":null,"freeform_exon":null,"freeform_intron":null,"freeform_predicted_protein":null,"alternative_splicing":false,"gene_name":"ABCB6","approved":true,"gnomad_all":0.0001827707299181435,"gnomad_afr":0.00005337745869919133,"gnomad_amr":0.000033330000333300005,"gnomad_asj":0,"gnomad_eas":0,"gnomad_fin":0,"gnomad_nfe":0.00020423209579417472,"gnomad_remaining":0.0002880829678947537,"gnomad_sas":0.0003293518355875637,"gnomad_mid":0,"gnomad_ami":0,"createdAt":"2024-04-29T09:59:58.559Z","updatedAt":"2026-04-02T19:28:30.725Z","version":4}],"genbanks":[{"id":792,"accession":"KF831586","definition":"UNVERIFIED: Homo sapiens isolate 5LAN- ATP-binding casette B6-like (ABCB6) gene, partial sequence","createdAt":"2024-09-29T14:40:10.371Z","updatedAt":"2024-09-29T14:40:10.371Z","version":1}],"publications":[{"id":650,"identifier":"24456066","citation":"Haer-Wigman L, Ait Soussan A, Ligthart P, de Haas M, van der Schoot CE. Molecular analysis of immunized Jr(a-) or Lan- patients and validation of a high-throughput genotyping assay to screen blood donors for Jr(a-) and Lan- phenotypes. Transfusion. 2014 Jul;7(54):1836-46.","type":"pmid","createdAt":"2024-09-29T12:17:36.387Z","updatedAt":"2024-09-29T12:17:36.387Z","version":1}],"createdBy":{"username":"Nick Gleadall"},"updatedBy":{"username":"Nick Gleadall"},"createdAt":"2024-04-29T09:38:53.902Z","updatedAt":"2026-04-02T19:28:30.796Z","version":2}