ABCB6 - ATP binding cassette subfamily B member 6 (Langereis blood group) Gene

Also Known as ABC; LAN; PRP; umat; MTABC3

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 10058

About ABCB6

Cytogenetic location: 2q35 Genomic coordinates (GRCh38): 2:219,209,772-219,218,958 (from NCBI)

This gene has 13 transcripts (splice variants), 241 orthologues, 10 paralogues and is associated with 14 phenotypes. Ubiquitous expression in testis (RPKM 14.1), ovary (RPKM 9.7) and 25 other tissues.

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]

ABCB6 Products (2)

mRNA	Protein	Name
NM_001349828.2	NP_001336757.1	ATP-binding cassette sub-family B member 6 isoform 2
NM_005689.4	NP_005680.1	ATP-binding cassette sub-family B member 6 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables ABC-type heme transporter activity	IMP IMP: Inferred from mutant phenotype	17006453	GOA
enables ABC-type transporter activity	IDA IDA: Inferred from direct assay	27507172	GOA
enables ABC-type transporter activity	IMP IMP: Inferred from mutant phenotype	23792964	GOA
enables ATP binding	IDA IDA: Inferred from direct assay	10837493	GOA
enables ATP hydrolysis activity	IDA IDA: Inferred from direct assay	33007128	GOA
enables efflux transmembrane transporter activity	IDA IDA: Inferred from direct assay	17661442	GOA
enables heme binding	IDA IDA: Inferred from direct assay	17006453	GOA
enables tetrapyrrole binding	IDA IDA: Inferred from direct assay	17006453	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in brain development	IMP IMP: Inferred from mutant phenotype	22100072	GOA
involved in cellular detoxification of cadmium ion	IDA IDA: Inferred from direct assay	31053883	GOA
NOT involved in heme B biosynthetic process	IMP IMP: Inferred from mutant phenotype	22655043	GOA
involved in heme metabolic process	IDA IDA: Inferred from direct assay	33007128	GOA
involved in heme transmembrane transport	IDA IDA: Inferred from direct assay	33007128	GOA
involved in heme transport	IDA IDA: Inferred from direct assay	17661442	GOA
involved in heme transport	IMP IMP: Inferred from mutant phenotype	17006453	GOA
involved in melanosome assembly	IDA IDA: Inferred from direct assay	29940187	GOA
involved in porphyrin-containing compound biosynthetic process	IDA IDA: Inferred from direct assay	17006453	GOA
involved in porphyrin-containing compound metabolic process	IDA IDA: Inferred from direct assay	27507172	GOA
involved in porphyrin-containing compound metabolic process	IMP IMP: Inferred from mutant phenotype	33007128	GOA
involved in skin development	IMP IMP: Inferred from mutant phenotype	22100072	GOA
involved in tetrapyrrole metabolic process	IMP IMP: Inferred from mutant phenotype	23792964	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in Golgi apparatus	IDA IDA: Inferred from direct assay	18279659	GOA
located in endolysosome membrane	IDA IDA: Inferred from direct assay	25627919	GOA
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	22226084	GOA
located in endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	21199866	GOA
located in extracellular exosome	IDA IDA: Inferred from direct assay	22655043	GOA
located in lysosomal membrane	IDA IDA: Inferred from direct assay	22655043	GOA
located in melanosome membrane	IDA IDA: Inferred from direct assay	29940187	GOA
located in mitochondrial envelope	IDA IDA: Inferred from direct assay	10837493	GOA
located in mitochondrial outer membrane	IDA IDA: Inferred from direct assay	17006453	GOA
NOT located in mitochondrion	IDA IDA: Inferred from direct assay	18279659	GOA
located in mitochondrion	IDA IDA: Inferred from direct assay	10837493	GOA
located in mitochondrion	IMP IMP: Inferred from mutant phenotype	23792964	GOA
located in multivesicular body membrane	IDA IDA: Inferred from direct assay	25627919	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	17661442	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ABCB6 Protein Structure

ABC_membrane

ABC_tran

0
200
400
600
800
842 a.a.

Protein Preferred Names	Protein Names
ATP-binding cassette sub-family B member 6	ABC-type heme transporter ABCB6

Related Diseases

Diseases	Alias
Dyschromatosis Universalis Hereditaria 3	DUH3 Dsh Dyschromatosis Symmetrica Hereditaria Reticulate Acropigmentation Of Dohi Symmetric Dyschromatosis Of The Extremities Dyschromatosis Universalis Hereditaria, Type 3 Symmetrical Dyschromatosis Of Extremities
Microphthalmia, Isolated, With Coloboma 7	MCOPCB7 Microphthalmia, Isolated, With Coloboma, 7 Isolated Colobomatous Microphthalmia 7 Microphthalmia, Isolated, With Coloboma, Type 7
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Pseudohyperkalemia Cardiff Familial Pseudohyperkalemia PSHK2 Pseudohyperkalemia Lille Pseudohyperkalemia Falkirk Pseudohyperkalemia Chiswick Pseudohyperkalemia East London Cryohydrocytosis, Mild Cryohydrocytosis Stomatocytosis, Cold-Sensitive
Blood Group, Langereis System	LAN Blood Group System, Langereis
Coloboma Of Macula	Coloboma Congenital Ocular Coloboma Microphthalmia, Isolated, With Coloboma Agenesis Of Macula Hereditary Macular Coloboma Ocular Coloboma Coloboma Of Eye Macular Coloboma Uveoretinal Coloboma
Dyschromatosis Universalis Hereditaria	Duh
Coloboma Of Eyelid	Eyelid Coloboma
Coloboma Of Eye Lens
Retinochoroidal Coloboma	Coloboma Of Choroid And Retina Retinal Coloboma Choroidal Coloboma Chorioretinal Coloboma
Coloboma Of Optic Nerve	Morning Glory Disc Anomaly Coloboma Of Optic Disc Morning Glory Syndrome Ectasic Coloboma Coloboma Of Optic Papilla Congenital Coloboma Of The Optic Nerve Optic Nerve Coloboma Optic Nerve Head Pits, Bilateral Congenital Volubilis Syndrome COLON Coloboma Of Optic Disc, Unspecified Eye Congenital Coloboma Of Optic Disc Optic Disk Coloboma
Coloboma Of Iris	Iris Coloboma Cleft Iris Congenital Coloboma Of Iris Notched Iris Coloboma Nos Coloboma Of Iris, Choroid And Retina Coloboma Of Eye Congenital Ocular Coloboma Ocular Coloboma
Colobomatous Microphthalmia	Anophthalmia-Microphthalmia Syndrome Mac Microphthalmia With Colobomatous Cyst Microphthalmia-Anophthalmia-Coloboma Syndrome Microphthalmia-Anophthalmia-Coloboma Microphthalmia And Mental Deficiency
Porphyria	Hematoporphyria Porphyrias Disorder Of Porphyrin And Hem Metabolism Disorder Of Porphyrin Metabolism Porphyrinopathy Porphyrin Disorder Disorder Of Porphyrin And Heme Metabolism Disorders Of Porphyrin Metabolism
Adrenoleukodystrophy	X-Linked Adrenoleukodystrophy ALD Siemerling-Creutzfeldt Disease X-Ald X-Linked Cerebral Adrenoleukodystrophy Bronze Schilder Disease Melanodermic Leukodystrophy Addison Disease And Cerebral Sclerosis Adrenomyeloneuropathy, Adult Diffuse Sclerosis X-Cald Adrenomyeloneuropathy Encephalitis Periaxialis Concentrica Encephalitis Periaxialis, Schilder'S Sudanophilic Cerebral Sclerosis Ald Childhood Cerebral Form Adrenoleukodystrophy X-Linked Cerebral Form Adrenoleukodystrophy Childhood Cerebral Form Childhood Cerebral Ald Schilder Disease X-Linked Ald Adrenoleukodystrophy, X-Linked Amn Diffuse Cerebral Sclerosis Of Schilder Systemic Scleroderma Balo'S Concentric Sclerosis Ald - [Adrenoleukodystrophy] Addison-Schilder
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Dehydrated Hereditary Stomatocytosis Hereditary Xerocytosis Xerocytosis, Hereditary Pshk1 Pseudohyperkalemia Edinburgh Dehydrated Hereditary Stomatocytosis With Or Without Pseudohyperkalemia And/Or Perinatal Edema DHS1 Dhs Hereditary Desiccytosis Dehydrated Hereditary Stomatocytosis 1 Desiccytosis, Hereditary Pseudohyperkalemia, Familial, 1, Due To Red Cell Leak Pseudohyperkalemia Familial 1, Due To Red Cell Leak Desiccytosis Hereditary Xerocytosis Hereditary Familial Pseudohyperkalemia 1 Due To Red Cell Leak Stomatocytosis, Dehydrated, Hereditary, With/Without Pseudohyperkalemia And/Or Perinatal Edema Xerocytosis
Myasthenic Syndrome, Congenital, 1a, Slow-Channel	Congenital Myasthenic Syndrome 1a Congenital Myasthenic Syndrome 2a CMS1A Cms Iia Congenital Myasthenic Syndrome Type Iia Cms2a Myasthenic Syndrome, Congenital, Type Iia, Formerly Cms2a, Formerly Cms Iia, Formerly Congenital Myasthenic Syndrome 1a, Slow-Channel Congenital Myasthenic Syndrome 2a Slow-Channel Congenital Myasthenic Syndrome Post-Synaptic Slow-Channel Myasthenic Syndrome, Congenital, Slow-Channel Sccms Myasthenic Syndrome, Congenital, Type 1a, Slow-Channel Myasthenic Syndrome, Congenital, Postsynaptic Slow-Channel Myasthenic Syndromes, Congenital, Slow Channel
Nystagmus 7, Congenital, Autosomal Dominant	NYS7 Congenital Nystagmus 7 Autosomal Dominant Congenital Nystagmus 7
Heel Spur	Calcaneal Spur
Hyperekplexia 1	HKPX1 Exaggerated Startle Reaction Sthe Stiff-Baby Syndrome Kok Disease Startle Disease, Familial Startle Reaction, Exaggerated Stiff-Man Syndrome, Congenital Stiff-Person Syndrome, Congenital Congenital Stiff-Man Syndrome Congenital Stiff-Person Syndrome Familial Startle Disease Hereditary Hyperexplexia 1 Hyperekplexia Hereditary 1 Autosomal Dominant Or Recessive Hyperekplexia Hereditary Hyperexplexia Stiff-Person Syndrome
Quadriplegia	Tetraplegia Tetraplegias
Osteopetrosis, Autosomal Recessive 6	OPTB6 Autosomal Recessive Osteopetrosis 6 Autosomal Recessive Osteopetrosis Intermediate Form Osteopetrosis, Autosomal Recessive, Intermediate Form Osteopetrosis Autosomal Recessive 6 Autosomal Recessive Osteopetrosis Type 6 Osteopetrosis Autosomal Recessive Intermediate Form Intermediate Osteopetrosis Autosomal Recessive Intermediate Osteopetrosis Osteopetrosis, Autosomal Recessive, Type 6
Dyschromatosis Symmetrica Hereditaria	Dyschromatosis Symmetrica Hereditaria 1 Reticulate Acropigmentation Of Dohi DSH Dsh1 Symmetric Dyschromatosis Of The Extremities Rad Familial Reticulate Acropigmentation Of Dohi Acropigmentation Of Dohi Symmetrical Dyschromatosis Of Extremities
Microphthalmia	Microphthalmos Isolated Anophthalmia-Microphthalmia Syndrome Isolated Microphthalmia-Anophthalmia-Coloboma Simple Microphthalmos Clinical Anophthalmia Isolated Anophthalmia - Microphthalmia Isolated Pure Microphthalmia Mac Spectrum Microphthalmia-Anophthalmia-Coloboma Spectrum Primitive Anophthalmia Globe Of Eye Small Small Eyeball Hypoplasia Of Eye Isolated Nanophthalmos Rudimentary Eye Dysplasia Of Eye
Nystagmus 3, Congenital, Autosomal Dominant	NYS3 Congenital Nystagmus 3 Autosomal Dominant Congenital Nystagmus 3
Pigmentation Disease	Pigmentation Disorders Skin Pigmentation Disorder
Cutaneous Porphyria	Porphyria, Erythropoietic Erythropoietic Porphyria
Protoporphyria, Erythropoietic, 1	Erythropoietic Protoporphyria Epp Ferrochelatase Deficiency Protoporphyria, Erythropoietic Erythrohepatic Protoporphyria Heme Synthetase Deficiency Autosomal Erythropoietic Protoporphyria EPP1 Protoporphyria Protoporphyria Erythropoietic
Variegate Porphyria	Porphyria Variegata Protoporphyrinogen Oxidase Deficiency VP Ppox Deficiency Porphyria, South African Type Porphyria Variegata, Susceptibility To Protocoproporphyria Porphyria Variegate Porphyria South African Type Pv Porphyria, Variegate Vp - [Variegate Porphyria]
Fanconi Anemia, Complementation Group A	Fanconi Anemia Fanconi Pancytopenia Fanconi Anemia Complementation Group A FANCA Fa Fanconi Panmyelopathy Fanconi'S Anemia Fanconi Anaemia Fanconi'S Anaemia Fanconi Hypoplastic Anemia Estren-Dameshek Variant Of Fanconi Anemia Estren-Dameshek Variant Of Fanconi Pancytopenia Fanconi Anemia Estren-Dameshek Variant Fanconis Anemia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00053	ABCB6 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20354	Abcb6 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26863	Abcb6 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	ABCB6	VGNC	VGNC:80127
Mus musculus	ABCB6	MGD	MGI:1921354
Rattus norvegicus	ABCB6	RGD	RGD:71077
Bos taurus	ABCB6	VGNC	VGNC:49049
Canis familiaris	ABCB6	VGNC	VGNC:49115
Others	ABCB6	NCBI