ABCC6

ABCC6
ATP-binding cassette, subfamilia C (CFTR/MRP), miembro 6
HUGO 57
Símbolo ABCC6
Símbolos alt. ARA, PXE
Datos genéticos
Locus Cr. 16 p13.1
Bases de datos
Entrez 368
OMIM 603234
RefSeq NM_001171
UniProt O95255

La proteína codificada por el gen ABCC6 es un miembro de la superfamilia de los transportadores ABC.

Las proteínas ABC transportan varias moléculas a través de membranas extra e intracelulares. Los genes ABC están divididos en siete subfamilias (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). La proteína codificada por ABCC6 es un miembro de la subfamilia MRP, que está involucrada en la resistencia contra multi-drogas.

Patología

Mutaciones en esta proteína causan pseudoxantoma elástico (PXE).[1] Las mutaciones más comunes, R1141X y 23-29del, dan cuenta del 25% de las mutaciones documentadas.[2] [3]

Referencias

  1. 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):  pp. 223-7. doi:10.1038/76102. PMID 10835642. 
  2. 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):  pp. 749-64. PMID 11536079. 
  3. 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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