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Aliases for ABCC6 Gene

Aliases for ABCC6 Gene

  • ATP Binding Cassette Subfamily C Member 6 2 3 5
  • ATP-Binding Cassette, Sub-Family C (CFTR/MRP), Member 6 2 3
  • Anthracycline Resistance-Associated Protein 3 4
  • Multi-Specific Organic Anion Transporter E 3 4
  • ATP-Binding Cassette Sub-Family C Member 6 3 4
  • MOAT-E 3 4
  • MRP6 3 4
  • ARA 3 4
  • Multidrug Resistance-Associated Protein 6 3
  • Pseudoxanthoma Elasticum 2
  • URG7 Protein 3
  • EST349056 3
  • ABC34 3
  • GACI2 3
  • MOATE 3
  • MLP1 3
  • PXE1 3
  • URG7 3
  • PXE 3

External Ids for ABCC6 Gene

Previous HGNC Symbols for ABCC6 Gene

  • ARA
  • PXE

Previous GeneCards Identifiers for ABCC6 Gene

  • GC16M016071
  • GC16M015526
  • GC16M016210
  • GC16M016151
  • GC16M015637

Summaries for ABCC6 Gene

Entrez Gene Summary for ABCC6 Gene

  • 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]

GeneCards Summary for ABCC6 Gene

ABCC6 (ATP Binding Cassette Subfamily C Member 6) is a Protein Coding gene. Diseases associated with ABCC6 include Pseudoxanthoma Elasticum and Arterial Calcification, Generalized, Of Infancy, 2. Among its related pathways are Regulation of activated PAK-2p34 by proteasome mediated degradation and Glucose / Energy Metabolism. GO annotations related to this gene include transporter activity and ATPase activity, coupled to transmembrane movement of substances. An important paralog of this gene is ABCC3.

UniProtKB/Swiss-Prot for ABCC6 Gene

  • Isoform 1: May participate directly in the active transport of drugs into subcellular organelles or influence drug distribution indirectly. Transports glutathione conjugates as leukotriene-c4 (LTC4) and N-ethylmaleimide S-glutathione (NEM-GS).

  • Isoform 2: Inhibits TNF-alpha-mediated apoptosis through blocking one or more caspases.

Gene Wiki entry for ABCC6 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ABCC6 Gene

Genomics for ABCC6 Gene

Regulatory Elements for ABCC6 Gene

Enhancers for ABCC6 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16F016201 1 Ensembl ENCODE 18.1 +21.6 21573 1.8 CTCF EBF1 RAD21 GATA3 ELK1 PRDM10 SRF MTA2 TRIM22 ATF2 NOMO3 ABCC6 LOC105371100 GC16P016190
GH16F016593 0.6 Ensembl 11.5 -369.8 -369835 0.8 HDGF CTCF ZNF654 TRIM22 YBX1 RAD21 ZFHX2 POLR2A EGR2 ABCC6 ENSG00000227827 GC16P016597 GC16M016558
GH16F016199 0.6 ENCODE 5 +24.0 24045 0.1 MTA2 IKZF1 NBN BMI1 TBX21 SPI1 ABCC6 GC16P016190 LOC105371100
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ABCC6 on UCSC Golden Path with GeneCards custom track

Promoters for ABCC6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001799995 273 1201 SAP130 ZNF600

Genomic Location for ABCC6 Gene

Chromosome:
16
Start:
16,148,928 bp from pter
End:
16,223,673 bp from pter
Size:
74,746 bases
Orientation:
Minus strand

Genomic View for ABCC6 Gene

Genes around ABCC6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ABCC6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ABCC6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ABCC6 Gene

Proteins for ABCC6 Gene

  • Protein details for ABCC6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95255-MRP6_HUMAN
    Recommended name:
    Multidrug resistance-associated protein 6
    Protein Accession:
    O95255
    Secondary Accessions:
    • A2RRN8
    • A8KIG6
    • A8Y988
    • E7ESW8
    • P78420
    • Q8TCY8
    • Q9UMZ7

    Protein attributes for ABCC6 Gene

    Size:
    1503 amino acids
    Molecular mass:
    164906 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAC15785.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for ABCC6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ABCC6 Gene

Post-translational modifications for ABCC6 Gene

  • Glycosylation at Asn 15
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for ABCC6 (ABCC6)

No data available for DME Specific Peptides for ABCC6 Gene

Domains & Families for ABCC6 Gene

Gene Families for ABCC6 Gene

Graphical View of Domain Structure for InterPro Entry

O95255

UniProtKB/Swiss-Prot:

MRP6_HUMAN :
  • Contains 2 ABC transmembrane type-1 domains.
  • Belongs to the ABC transporter superfamily. ABCC family. Conjugate transporter (TC 3.A.1.208) subfamily.
Domain:
  • Contains 2 ABC transmembrane type-1 domains.
  • Contains 2 ABC transporter domains.
Family:
  • Belongs to the ABC transporter superfamily. ABCC family. Conjugate transporter (TC 3.A.1.208) subfamily.
genes like me logo Genes that share domains with ABCC6: view

Function for ABCC6 Gene

Molecular function for ABCC6 Gene

GENATLAS Biochemistry:
ATP binding cassette superfamily,subfamily C (CFTR/MRP),member 6,expressed in normal hematopoietic precursors
UniProtKB/Swiss-Prot Function:
Isoform 1: May participate directly in the active transport of drugs into subcellular organelles or influence drug distribution indirectly. Transports glutathione conjugates as leukotriene-c4 (LTC4) and N-ethylmaleimide S-glutathione (NEM-GS).
UniProtKB/Swiss-Prot Function:
Isoform 2: Inhibits TNF-alpha-mediated apoptosis through blocking one or more caspases.
UniProtKB/Swiss-Prot Induction:
Isoform 2 is induced by HBV x antigen upon hepatitis B viral infection.

Gene Ontology (GO) - Molecular Function for ABCC6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005215 transporter activity IEA,TAS 8912525
GO:0005524 ATP binding IEA --
GO:0016887 ATPase activity IEA --
GO:0042626 ATPase activity, coupled to transmembrane movement of substances IEA,TAS 8912525
GO:0043225 ATPase-coupled anion transmembrane transporter activity TAS --
genes like me logo Genes that share ontologies with ABCC6: view
genes like me logo Genes that share phenotypes with ABCC6: view

Human Phenotype Ontology for ABCC6 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ABCC6 Gene

MGI Knock Outs for ABCC6:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for ABCC6 Gene

Localization for ABCC6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ABCC6 Gene

Isoform 1: Basolateral cell membrane; Multi-pass membrane protein.
Isoform 2: Endoplasmic reticulum membrane; Single-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ABCC6 gene
Compartment Confidence
plasma membrane 5
nucleus 4
extracellular 3
endoplasmic reticulum 3
cytosol 1

Gene Ontology (GO) - Cellular Components for ABCC6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005886 plasma membrane IEA,TAS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with ABCC6: view

Pathways & Interactions for ABCC6 Gene

genes like me logo Genes that share pathways with ABCC6: view

Pathways by source for ABCC6 Gene

1 Cell Signaling Technology pathway for ABCC6 Gene
1 KEGG pathway for ABCC6 Gene

Gene Ontology (GO) - Biological Process for ABCC6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA,TAS 8912525
GO:0007601 visual perception IEA --
GO:0042493 response to drug TAS 8912525
GO:0050896 response to stimulus IEA --
GO:0055085 transmembrane transport IEA,TAS --
genes like me logo Genes that share ontologies with ABCC6: view

No data available for SIGNOR curated interactions for ABCC6 Gene

Drugs & Compounds for ABCC6 Gene

(17) Drugs for ABCC6 Gene - From: DrugBank, PharmGKB, FDA Approved Drugs, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Probenecid Approved Pharma Inhibition, Inhibitor, Transporter, inhibitor 27
Cisplatin Approved Pharma Transporter, substrate Inhibits DNA synthesis,chemotherapy drug, Platinum, Potent pro-apoptotic anticancer agent; activates caspase-3 2690
Dactinomycin Approved Pharma Transporter, substrate 48
Daunorubicin Approved Pharma Transporter, substrate DNA topoisomerase II inhibitor 264
Doxorubicin Approved, Investigational Pharma Transporter, substrate, inhibitor Topo II inhibitor,immunosuppresive antineoplastic antibiotic 1714

(3) Additional Compounds for ABCC6 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ABCC6: view

Transcripts for ABCC6 Gene

Unigene Clusters for ABCC6 Gene

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

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ABCC6 Gene

No ASD Table

Relevant External Links for ABCC6 Gene

GeneLoc Exon Structure for
ABCC6
ECgene alternative splicing isoforms for
ABCC6

Expression for ABCC6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ABCC6 Gene

mRNA differential expression in normal tissues according to GTEx for ABCC6 Gene

This gene is overexpressed in Liver (x25.8), Kidney - Cortex (x4.5), and Pancreas (x4.1).

Protein differential expression in normal tissues from HIPED for ABCC6 Gene

This gene is overexpressed in Fetal Liver (28.6), Liver (20.3), and Gallbladder (10.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ABCC6 Gene



Protein tissue co-expression partners for ABCC6 Gene

NURSA nuclear receptor signaling pathways regulating expression of ABCC6 Gene:

ABCC6

SOURCE GeneReport for Unigene cluster for ABCC6 Gene:

Hs.442182

mRNA Expression by UniProt/SwissProt for ABCC6 Gene:

O95255-MRP6_HUMAN
Tissue specificity: Expressed in kidney and liver. Very low expression in other tissues.
genes like me logo Genes that share expression patterns with ABCC6: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for ABCC6 Gene

Orthologs for ABCC6 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ABCC6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ABCC6 34 35
  • 99.05 (n)
cow
(Bos Taurus)
Mammalia ABCC6 34 35
  • 85.61 (n)
dog
(Canis familiaris)
Mammalia ABCC6 34 35
  • 83.97 (n)
mouse
(Mus musculus)
Mammalia Abcc6 34 16 35
  • 80.94 (n)
rat
(Rattus norvegicus)
Mammalia Abcc6 34
  • 80.81 (n)
oppossum
(Monodelphis domestica)
Mammalia ABCC6 35
  • 63 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ABCC6 35
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves ABCC6 34 35
  • 60.05 (n)
lizard
(Anolis carolinensis)
Reptilia ABCC6 35
  • 53 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii ABCC6 35
  • 27 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea mrp-1 35
  • 35 (a)
ManyToMany
C18C4.2 36
  • 23 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YCF1 35
  • 33 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 29 (a)
ManyToMany
Species where no ortholog for ABCC6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for ABCC6 Gene

ENSEMBL:
Gene Tree for ABCC6 (if available)
TreeFam:
Gene Tree for ABCC6 (if available)

Paralogs for ABCC6 Gene

Paralogs for ABCC6 Gene

Pseudogenes.org Pseudogenes for ABCC6 Gene

genes like me logo Genes that share paralogs with ABCC6: view

Variants for ABCC6 Gene

Sequence variations from dbSNP and Humsavar for ABCC6 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs28939701 Pseudoxanthoma elasticum (PXE) [MIM:264800], Pathogenic 16,163,087(-) TGGTC(C/T)GGGCA intron-variant, nc-transcript-variant, reference, missense
rs28939702 Pseudoxanthoma elasticum (PXE) [MIM:264800], Pathogenic 16,154,899(-) CACTG(A/C/T)GCTCC downstream-variant-500B, reference, missense
rs3853814 Pseudoxanthoma elasticum (PXE) [MIM:264800]
rs387906859 Pseudoxanthoma elasticum (PXE) [MIM:264800], Pathogenic 16,150,765(-) TGGGC(A/C)AGAAA reference, missense
rs537233133 Arterial calcification of infancy, generalized, 2 (GACI2) [MIM:614473] 16,188,841(+) CGAGG(A/G)AGTGG nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for ABCC6 Gene

Variant ID Type Subtype PubMed ID
nsv984273 CNV duplication 23825009
nsv977918 CNV duplication 23825009
nsv952937 CNV deletion 24416366
nsv571552 CNV loss 21841781
nsv571551 CNV loss 21841781
nsv571547 CNV gain 21841781
nsv469785 CNV gain+loss 16826518
nsv457437 CNV gain 19166990
nsv457428 CNV gain 19166990
nsv435664 CNV deletion 17901297
nsv428319 CNV loss 18775914
nsv1149767 CNV insertion 26484159
nsv1125134 CNV deletion 24896259
nsv1124723 CNV duplication 24896259
nsv1117156 CNV tandem duplication 24896259
nsv1053451 CNV gain 25217958
nsv1049647 CNV gain+loss 25217958
nsv1047898 CNV loss 25217958
nsv1045013 CNV loss 25217958
esv3638052 CNV gain 21293372
esv3638050 CNV gain 21293372
esv3582046 CNV loss 25503493
esv3570398 CNV gain 25503493
esv34006 CNV loss 18971310
esv33614 CNV gain+loss 17666407
esv2758633 CNV gain+loss 17122850
esv2714028 CNV deletion 23290073
esv2714015 CNV deletion 23290073
esv27065 CNV gain 19812545
esv1100706 CNV deletion 17803354
esv1081882 CNV insertion 17803354
dgv798e212 CNV loss 25503493
dgv797e212 CNV loss 25503493
dgv4927n54 CNV loss 21841781
dgv4924n54 CNV gain 21841781
dgv2776n100 CNV gain+loss 25217958
dgv2775n100 CNV gain 25217958

Variation tolerance for ABCC6 Gene

Residual Variation Intolerance Score: 56.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.73; 89.36% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ABCC6 Gene

Human Gene Mutation Database (HGMD)
ABCC6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ABCC6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ABCC6 Gene

Disorders for ABCC6 Gene

MalaCards: The human disease database

(18) MalaCards diseases for ABCC6 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
pseudoxanthoma elasticum
  • pseudoxanthoma elasticum, modifier of severity of
arterial calcification, generalized, of infancy, 2
  • arterial calcification of infancy
pseudoxanthoma elasticum, forme fruste
arterial calcification, generalized, of infancy, 1
  • arterial calcification of infancy
angioid streaks
- elite association - COSMIC cancer census association via MalaCards
Search ABCC6 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MRP6_HUMAN
  • Arterial calcification of infancy, generalized, 2 (GACI2) [MIM:614473]: A severe autosomal recessive disorder characterized by calcification of the internal elastic lamina of muscular arteries and stenosis due to myointimal proliferation. The disorder is often fatal within the first 6 months of life because of myocardial ischemia resulting in refractory heart failure. {ECO:0000269 PubMed:22209248}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Pseudoxanthoma elasticum (PXE) [MIM:264800]: A multisystem disorder characterized by accumulation of mineralized and fragmented elastic fibers in the skin, vascular walls, and Burch membrane in the eye. Clinically, patients exhibit characteristic lesions of the posterior segment of the eye including peau dorange, angioid streaks, and choroidal neovascularizations, of the skin including soft, ivory colored papules in a reticular pattern that predominantly affect the neck and large flexor surfaces, and of the cardiovascular system with peripheral and coronary arterial occlusive disease as well as gastrointestinal bleedings. {ECO:0000269 PubMed:10811882, ECO:0000269 PubMed:10835642, ECO:0000269 PubMed:10954200, ECO:0000269 PubMed:11427982, ECO:0000269 PubMed:11536079, ECO:0000269 PubMed:11702217, ECO:0000269 PubMed:15086542, ECO:0000269 PubMed:15098239, ECO:0000269 PubMed:15459974, ECO:0000269 PubMed:16086317, ECO:0000269 PubMed:17617515, ECO:0000269 PubMed:19339160, ECO:0000269 PubMed:20034067, ECO:0000269 PubMed:25615550}. Note=The disease is caused by mutations affecting the gene represented in this entry. Homozygous or compound heterozygous ABCC6 mutations have been found in the overwhelming majority of cases. Individuals carrying heterozygous mutations express limited manifestations of the pseudoxanthoma elasticum phenotype.

Relevant External Links for ABCC6

Genetic Association Database (GAD)
ABCC6
Human Genome Epidemiology (HuGE) Navigator
ABCC6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ABCC6
genes like me logo Genes that share disorders with ABCC6: view

No data available for Genatlas for ABCC6 Gene

Publications for ABCC6 Gene

  1. Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum. (PMID: 17617515) Pfendner E.G. … Bercovitch L.G. (J. Med. Genet. 2007) 3 4 22 46 64
  2. Loss of ATP-dependent transport activity in pseudoxanthoma elasticum- associated mutants of human ABCC6 (MRP6). (PMID: 11880368) Ilias A. … Varadi A. (J. Biol. Chem. 2002) 3 4 22 25 64
  3. ABCC6 gene polymorphism associated with variation in plasma lipoproteins. (PMID: 11776382) Wang J. … Hegele R.A. (J. Hum. Genet. 2001) 3 4 22 46 64
  4. The R1141X loss-of-function mutation of the ABCC6 gene is a strong genetic risk factor for coronary artery disease. (PMID: 19929409) KAPblAPs G. … ArA!nyi T. (Genet Test Mol Biomarkers 2010) 3 22 46 64
  5. Novel mutations of ABCC6 gene in Japanese patients with Angioid streaks. (PMID: 19284998) Sato N. … Yuzawa M. (Biochem. Biophys. Res. Commun. 2009) 3 22 46 64

Products for ABCC6 Gene

Sources for ABCC6 Gene

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