{"id":713,"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.15","alternate_names":null,"isbt_phenotype":"Lan-","isbt_snp":"c.376delG","table_row_group":null,"notes":null,"approved":true,"comment":null,"deleted":false,"obsolete":false,"provisional":false,"phenotypes":[{"id":6797,"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":"2024-04-29T09:56:06.450Z","updatedAt":"2024-04-29T09:56:06.450Z","version":1}],"variants":[{"id":374,"input":"NM_005689.4:c.376delG","note":null,"hgvs_transcript":"NM_005689.4:c.376del","exon":"1","intron":null,"rsid":"rs377591749","hgvs_intronic_chr_context":null,"hgvs_intronic_rsg_context":null,"hgvs_refseqgene":"NG_032110.1:g.5693del","hgvs_lrg":"LRG_824:g.5693del","hgvs_lrg_transcript":null,"hgvs_predicted_protein":"NP_005680.1:p.(Val126SerfsTer124)","hgvs_genomic_grch37":"NC_000002.11:g.220083020del","hgvs_genomic_grch38":"NC_000002.12:g.219218298del","grch37_chr":"2","grch37_pos":220083019,"grch37_ref":"AC","grch37_alt":"A","grch38_chr":"2","grch38_pos":219218297,"grch38_ref":"AC","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":0.00007005119316399542,"gnomad_afr":0.001318839421309248,"gnomad_amr":0.00006663557006730193,"gnomad_asj":0,"gnomad_eas":0,"gnomad_fin":0,"gnomad_nfe":0,"gnomad_remaining":0.00016002560409665546,"gnomad_sas":0,"gnomad_mid":0,"gnomad_ami":0,"createdAt":"2024-04-29T09:59:59.188Z","updatedAt":"2026-04-02T14:48:01.474Z","version":5}],"genbanks":[],"publications":[{"id":651,"identifier":"23763549","citation":"Reid ME, Hue-Roye K, Huang A, Velliquette RW, Tani Y, Westhoff CM, Lomas-Francis C, Zelinski T. Alleles of the LAN blood group system: molecular and serologic investigations. Transfusion. 2014 Feb;2(54):398-404.","type":"pmid","createdAt":"2024-09-29T12:17:36.436Z","updatedAt":"2024-09-29T12:17:36.436Z","version":1}],"createdBy":{"username":"Nick Gleadall"},"updatedBy":{"username":"Nick Gleadall"},"createdAt":"2024-04-29T09:38:52.030Z","updatedAt":"2026-04-02T14:48:01.550Z","version":2}