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

Homo sapiens

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

Gene ID: 10058 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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
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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00053	ABCB6 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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