ABCC6

	ATP-binding cassette, sub-family C (CFTR/MRP), member 6
	Identifiers
Symbol	ABCC6
Alt. Symbols	ARA, PXE
Entrez	368
HUGO	57
OMIM	603234
RefSeq	NM_001171
UniProt	O95255
	Other data
Locus	Chr. 16 p13.1

The protein encoded by the ABCC6 gene is a member of the superfamily of ATP-binding cassette (ABC) transporters.^[1]

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). This protein is a member of the MRP subfamily which is involved in multidrug resistance.^[2]

Pathology

Mutations in this protein cause pseudoxanthoma elasticum (PXE).^[3] The most common mutations, R1141X and 23-29del, account for about 25% of the found mutations.^[4]^[5]

References

↑ Kuss BJ, O'Neill GM, Eyre H, Doggett NA, Callen DF, Davey RA (1998). "ARA, a novel ABC transporter, is located at 16p13.1, is deleted in inv(16) leukemias, and is shown to be expressed in primitive hematopoietic precursors". Genomics 51 (3): 455–8. doi:10.1006/geno.1998.5349. PMID 9721217.
↑ O'Neill GM, Peters GB, Harvie RM, MacKenzie HB, Henness S, Davey RA (1998). "Amplification and expression of the ABC transporters ARA and MRP in a series of multidrug-resistant leukaemia cell sublines". Br. J. Cancer 77 (12): 2076–80. PMID 9649117.
↑ Le Saux O, Urban Z, Tschuch C, Csiszar K, Bacchelli B, Quaglino D, Pasquali-Ronchetti I, Pope FM, Richards A, Terry S, Bercovitch L, de Paepe A, Boyd CD (2000). "Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum". Nat. Genet. 25 (2): 223-7. doi:10.1038/76102. PMID 10835642.
↑ Le Saux O, Beck K, Sachsinger C, Silvestri C, Treiber C, Göring HH, Johnson EW, De Paepe A, Pope FM, Pasquali-Ronchetti I, Bercovitch L, Marais AS, Viljoen DL, Terry SF, Boyd CD (2001). "A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum". Am. J. Hum. Genet. 69 (4): 749-64. PMID 11536079.
↑ Pfendner EG, Vanakker O, Terry SF, Vourthis S, McAndrew PE, McClain MR, Fratta S, Marais AS, Hariri S, Coucke PJ, Ramsay M, Viljoen D, Terry PF, De Paepe A, Uitto J, Bercovitch LG (2007). "Mutation Detection in the ABCC6 Gene and Genotype-Phenotype Analysis in a Large International Case Series Affected by Pseudoxanthoma Elasticum". doi:10.1136/jmg.2007.051094. PMID 17617515.

External links

MeSH ABCC6+protein,+human

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[pmid9721217-0] Kuss BJ, O'Neill GM, Eyre H, Doggett NA, Callen DF, Davey RA (1998). "ARA, a novel ABC transporter, is located at 16p13.1, is deleted in inv(16) leukemias, and is shown to be expressed in primitive hematopoietic precursors". Genomics 51 (3): 455–8. doi:10.1006/geno.1998.5349. PMID 9721217.

[pmid9649117-1] O'Neill GM, Peters GB, Harvie RM, MacKenzie HB, Henness S, Davey RA (1998). "Amplification and expression of the ABC transporters ARA and MRP in a series of multidrug-resistant leukaemia cell sublines". Br. J. Cancer 77 (12): 2076–80. PMID 9649117.

[pmid10835642-2] Le Saux O, Urban Z, Tschuch C, Csiszar K, Bacchelli B, Quaglino D, Pasquali-Ronchetti I, Pope FM, Richards A, Terry S, Bercovitch L, de Paepe A, Boyd CD (2000). "Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum". Nat. Genet. 25 (2): 223-7. doi:10.1038/76102. PMID 10835642.

[pmid11536079-3] Le Saux O, Beck K, Sachsinger C, Silvestri C, Treiber C, Göring HH, Johnson EW, De Paepe A, Pope FM, Pasquali-Ronchetti I, Bercovitch L, Marais AS, Viljoen DL, Terry SF, Boyd CD (2001). "A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum". Am. J. Hum. Genet. 69 (4): 749-64. PMID 11536079.

[pmid17617515-4] Pfendner EG, Vanakker O, Terry SF, Vourthis S, McAndrew PE, McClain MR, Fratta S, Marais AS, Hariri S, Coucke PJ, Ramsay M, Viljoen D, Terry PF, De Paepe A, Uitto J, Bercovitch LG (2007). "Mutation Detection in the ABCC6 Gene and Genotype-Phenotype Analysis in a Large International Case Series Affected by Pseudoxanthoma Elasticum". doi:10.1136/jmg.2007.051094. PMID 17617515.

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v • d • e Membrane proteins, carrier proteins: membrane transport proteins
ABC-transporter	A1, A2, A3, A4, A7, A8, A12, B1 B2-3, B2, B3, B4, B5, B6, B7, B9, B11 C1, C2, C3, C4, C5, C6, C8, C8-9, C10, C13, C11 D1, D2, D3, D4, E1, F1, F2 G1, G2, G4, Sterolin (G5, G8)
Solute carrier	1A1-7, 1A1, 1A2, 1A3, 1A4, 1A5, 2A1, 2A2, 2A3, 2A4, 2A5, 2A6, 2A8, 2A9, 2A10, 2A12, 3A1, 3A2, 4A1, 4A2, 4A3, 4A4, 4A5, 4A7, 4A8, 4A11, 5A1-2, 5A1, 5A3, 5A5, 5A8, 6A1, 6A2, 6A3, 6A4, 6A5, 6A8, 6A9, 6A19, 7A1, 7A2, 7A3, 7A4, 7A5, 7A7, 7A8, 7A9, 7A11, 8A1-3, 9A1, 9A2, 9A3, 9A3R1, 9A3R2, 9A5, 9A6, 9A8, 10A1, 10A2, 10A3, 10A7, 11A1, 11A2, 11A3, 12A1-2, 12A3, 12A4, 12A5, 12A6, 12A7, 14A1, 13A3, 14A2, 15A1, 15A2, 16A1, 16A2, 16A3, 16A4, 17A1, 17A5, 17A6-8, 17A7, 18A1, 18A2, 18A3, 19A1, 19A2, 19A3, 20A1, 20A2, 22A1, 22A2, 22A3, 22A4, 22A5, 22A6, 22A7, 22A9, 22A11, 22A12, 22A18, 23A1, 23A2, 24A1-2, 24A5, 25A1, 25A3, 25A4, 25A4-6, 25A8, 25A10, 25A11, 25A12, 25A13, 25A14, 25A15, 25A17, 25A19, 25A20, 25A27, 25A31, 25A37, 25A39, 26A2, 26A3, 26A4, 26A5, 26A6, 26A7, 26A8, 27A1, 27A2, 27A3, 27A4, 28A1, 28A2, 29A1, 29A2, 29A4, 30A4, 30A7, 30A8, 31A1, 31A2, 32A1, 34A1, 34A2, 34A3, 35A1, 35A2, 35B2, 35B4, 35C1, 36A1, 37A4, 38A2, 38A3, 39A1, 39A2, 39A3, 39A4, 39A6, 39A7, 40A1, 43A1 44A1, 44A2, 44A4, 45A2, O1A2, O1B1, O1B3, O2B1, O3A1, O4A1
Monosaccharide	GLUT1, GLUT2, GLUT3, GLUT4, GLUT5, GLUT6, GLUT8, GLUT9
Other	Amino acid (CD98) - Fatty acid (CD36) - Ion channels - Ion pumps - Mitochondrial membrane transport protein - Neurotransmitter transport proteins - Nuclear (Importin, Karyopherin)

ABCC6

Pathology

References

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ATP-binding cassette, sub-family C (CFTR/MRP), member 6
Identifiers
Symbol	ABCC6
Alt. Symbols	ARA, PXE
Entrez	368
HUGO	57
OMIM	603234
RefSeq	NM_001171
UniProt	O95255
Other data
Locus	Chr. 16 p13.1