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

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

ABCB6 Protein Structure

ABC_membrane

ABC_membrane: ABC transporter transmembrane region (266 - 544)

ABC_tran

ABC_tran: ABC transporter (606 - 755)

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  • 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

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