ABCC6 - ATP binding cassette subfamily C member 6 Gene

Homo sapiens

Also known as ARA; PXE; MLP1; MRP6; PXE1; URG7; ABC34; GACI2; MOATE; MOAT-E; EST349056

Gene ID: 368 | Gene type: protein coding

About ABCC6

Cytogenetic location: 16p13.11 Genomic coordinates (GRCh38): 16:16,149,565-16,223,494 (from NCBI)

This gene has 8 transcripts (splice variants), 1 gene allele, 166 orthologues, 11 paralogues and is associated with 7 phenotypes. Biased expression in liver (RPKM 16.7), kidney (RPKM 9.5) and 9 other tissues.

Summary

The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). The encoded protein, a member of the MRP subfamily, is involved in multi-drug resistance. Mutations in this gene cause pseudoxanthoma elasticum. Alternatively spliced transcript variants that encode different proteins have been described for this gene. [provided by RefSeq, Jul 2008]

ABCC6 Products(3)

mRNA	Protein	Name
NM_001079528.4	NP_001072996.1	URG7 protein isoform 2
NM_001171.6	NP_001162.5	ATP-binding cassette sub-family C member 6 isoform 1
NM_001351800.1	NP_001338729.1	ATP-binding cassette sub-family C member 6 isoform 3

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables ABC-type glutathione S-conjugate transporter activity	IDA IDA: Inferred from direct assay	11880368	GOA
enables ATP binding	IDA IDA: Inferred from direct assay	11880368	GOA
enables ATPase-coupled transmembrane transporter activity	IDA IDA: Inferred from direct assay	11880368	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in ATP metabolic process	IDA IDA: Inferred from direct assay	28592560	GOA
involved in ATP transport	IDA IDA: Inferred from direct assay	24277820	GOA
involved in calcium ion homeostasis	IDA IDA: Inferred from direct assay	28592560	GOA
involved in gene expression	IDA IDA: Inferred from direct assay	28592560	GOA
involved in leukotriene transport	IDA IDA: Inferred from direct assay	11880368	GOA
involved in phosphate ion homeostasis	IDA IDA: Inferred from direct assay	28592560	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in basal plasma membrane	IDA IDA: Inferred from direct assay	35307651	GOA
located in basolateral plasma membrane	IDA IDA: Inferred from direct assay	12901863	GOA
is active in extracellular region	IDA IDA: Inferred from direct assay	28592560	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

ABCC6 Protein Structure

ABC_membrane

ABC_tran

ABC_membrane

ABC_tran

0
300
600
900
1200
1503 a.a.

Protein Preferred Names

Protein Names

ATP-binding cassette sub-family C member 6

URG7 protein

ATP-binding cassette, sub-family C (CFTR/MRP), member 6

Related Diseases

Diseases

Alias

Pseudoxanthoma Elasticum

PXE	Gronblad-Strandberg Syndrome
Pseudoxanthoma Elasticum, Modifier Of Severity Of	Gronblad-Strandberg-Touraine Syndrome
Gronblad Strandberg Syndrome	Groenblad-Strandberg Syndrome
Nevus Elasticus	Pxe - [Pseudoxanthoma Elasticum]

Arterial Calcification, Generalized, Of Infancy, 2

GACI2	Arterial Calcification Of Infancy, Generalized, 2
Calcification, Arterial, Generalized, Of Infancy, Type 2

Pseudoxanthoma Elasticum, Forme Fruste

Cutis Laxa

Generalized Elastolysis	Loose Skin
Dermatolysis	Dermatomegaly
Cutis Laxa Syndrome

Arterial Calcification Of Infancy

Idiopathic Infantile Arterial Calcification	Generalized Arterial Calcification Of Infancy
Iiac	Occlusive Infantile Arteriopathy
Infantile Arteriosclerosis	Gaci
Idiopathic Obliterative Arteriopathy	Generalized Arterial Calcification In Infancy
Arteriopathia Calcificans Infantum	Diffuse Arterial Calcifying Elastopathy Of Infancy
Infantile Calcifying Arteriopathy	Medial Coronary Sclerosis Of Infancy
Coronary Sclerosis, Medial, Of Infancy	Calcification, Arterial, Generalized, Infancy

Eye Disease

Eye Diseases	Abnormality Of The Eye
Toxoplasma Oculopathy

Angioid Streaks

Calcification Of Joints And Arteries

Hereditary Arterial And Articular Multiple Calcification Syndrome	CALJA
Arterial Calcification Due To Cd73 Deficiency	Arterial Calcification Due To Deficiency Of Cd73
Acdc	Arterial Calcification And Distal Joint Calcification
Arterial Calcification Due To Deficiency Of Cd73:Acdc	Calcification Of Joints And Arteries
Calja

Macular Dystrophy, Patterned, 3

Martinique Crinkled Retinal Pigment Epitheliopathy	Patterned Macular Dystrophy 3
MDPT3	Mcrpe

Optic Disk Drusen

Optic Disc Drusen	Drusen Of Optic Disc
Optic Nerve Head Drusen	Drusen Optic Disc

Dubin-Johnson Syndrome

DJS	Chronic Idiopathic Jaundice
Jaundice, Chronic Idiopathic	Hyperbilirubinemia, Dubin-Johnson Type
Hyperbilirubinemia Ii	Hyperbilirubinemia Type 2
Conjugated Hyperbilirubinemia	Dubin-Sprinz Disease
Sprinz-Nelson Syndrome	Hblrdj
Dubin Johnson Syndrome	Hyperbilirubinemia 2
Black Liver-Jaundice Syndrome	Chronic Idiopathic Jaundice With Pigmented Liver
Dubin-Sprinz Syndrome	Hyperbilirubinaemia Type 2
Djs - [Dubin-Johnson Syndrome]

Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1

VKCFD1	Combined Deficiency Of Vitamin K-Dependent Clotting Factors 1
Vitamin K-Dependent Coagulation Defect	Multiple Coagulation Factor Deficiency Iii
Mcfd3	Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, Type 1
Vkcfd	Familial Multiple Coagulation Factor Deficiency Iii
Fmfd Iii	Factors Ii, Vii, Ix, And X, Combined Deficiency Of
Glutamic Acid, Deficient Gamma-Carboxylation Of

Tumoral Calcinosis, Normophosphatemic, Familial

Normophosphatemic Familial Tumoral Calcinosis	NFTC
Tumoral Calcinosis, Familial, Normophosphatemic	Calcinosis, Tumoral, With Normophosphatemia
Familial Normophosphatemic Tumoral Calcinosis	Tumoral Calcinosis With Normophosphatemia

Connective Tissue Disease

Connective Tissue Diseases	Connective Tissue Disorder
Abnormality Of Connective Tissue	Disorder Of Connective Tissue
Connective Tissue Disorders

Macular Degeneration, Age-Related, 2

Age Related Macular Degeneration 2	ARMD2
Macular Degeneration, Senile	Maculopathy, Age-Related, 2
Macular Degeneration, Age-Related, 2, Susceptibility To	Macular Degeneration, Age-Related, Type 2

Patterned Macular Dystrophy

Patterned Dystrophy Of Retinal Pigment Epithelium

Cutis Laxa, Autosomal Dominant 1

Cutis Laxa, Autosomal Dominant	Autosomal Dominant Cutis Laxa
ADCL1	Adcl
Autosomal Dominant Cutis Laxa 1	Cutis Laxa, Autosomal Dominant, 1
Cutis Laxa, Autosomal Dominant, Type 1

Carotid Artery Dissection

Dissection Of Carotid Artery

Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2

CADASIL2	Cadasil 2
Autosomal Dominant Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy Type 2	Htra1-Related Autosomal Dominant Cerebral Small Vessel Disease
Htra1-Related Autosomal Dominant Cerebral Angiopathy	Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, 2
Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy, Autosomal Dominant, 2

Familial Hypercholesterolemia

Hyperlipoproteinemia Type Iia	Familial Hyperbetalipoproteinaemia
Familial Hypercholesteremia	Fredrickson Type Iia Hyperlipoproteinemia
Fredrickson Type Iia Lipidaemia	Hyperbetalipoproteinemia
Type Ii Hyperlipidemia	Familial Hypercholesterolæmia
Familial Hypercholesterolaemia	Fh
Hypercholesterolemia Familial	Hyperlipoproteinemia Type Ii
Hypercholesterolemia, Familial

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

Bilirubin Metabolic Disorder

Hyperbilirubinemia	Hereditary Hyperbilirubinemia
Hyperbilirubinemia, Hereditary	Hyperbilirubinaemia

Autosomal Recessive Congenital Ichthyosis

Lamellar Ichthyosis	Congenital Ichthyosiform Erythroderma
Li	Congenital Nonbullous Ichthyosiform Erythroderma
Arci	Congenital Lamellar Ichthyosis
Nonbullous Congenital Ichthyosiform Erythroderma	Cie
Congenital Non-Bullous Ichthyosiform Erythroderma	Erythrodermic Ichthyosis
Nbcie	Ncie
Non-Bullous Congenital Ichthyosiform Erythroderma	Collodion Baby
Ichthyosis, Lamellar	Non Bullous Congenital Ichthyosiform Erythroderma
Ichthyosiform Erythroderma, Brocq Congenital, Nonbullous Form	Ichthyosiform Erythroderma, Congenital, Nonbullous, 1
Collodion Baby Syndrome	Ichthyoses, Lamellar
Nbie	Nonbullous Ichthyosiform Erythroderma
Classic Lamellar Ichthyosis	Ichthyosiform Erythroderma Nonbullous Congenital
Ichthyosiform Erythroderma Congenital	Ichthyosis, Congenital, Autosomal Recessive
Ichthyosiform Erythroderma, Congenital	Collodion Fetus
Non-Bullous Ichthyosiform Erythroderma

Ehlers-Danlos Syndrome

Eds	Cutis Hyperelastica
Elastic Skin	Ehlers-Danlos Syndromes
Ed Syndrome	Ehlers Danlos Syndrome
Ehlers Danlos Disease	Eds - [Ehlers-Danlos Syndrome]

Fundus Dystrophy

Retinal Dystrophy	Retinal Dystrophies
Dystrophy, Retinal

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-RS00065	ABCC6 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	ABCC6	VGNC	VGNC:50200
Rattus norvegicus	ABCC6	RGD	RGD:620268
Felis catus	ABCC6	VGNC	VGNC:67729
Canis familiaris	ABCC6	VGNC	VGNC:54911
Mus musculus	ABCC6	MGD	MGI:1351634

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