Similarly, an additional mutation related to vascular calcification is present in ATP-binding cassette, subfamily C, member 6 ( ABCC6
),[sup] a gene that codes for a transmembrane ATP-dependent protein.
Moreover, some ABC transporter genes, such as ABCB1, ABCA12, ABCA5, ABCA3, ABCC2, ABCC5, and ABCC6
, were strongly upregulated in CTC-MCC-41 compared with HT-29 cells.
This is explained by the fact that DBA/2 mice have an alternative splice variant of the Abcc6
gene resulting in an increased susceptibility to develop tissue calcification [14-16].
The ATP-binding cassette subfamily C member 6 (ABCC6
) gene was first reported in 2000 as the cause of PXE [3-5].
PXE is caused by mutations in the ABCC6
gene located on chromosome 16p13.1.4 This gene encodes MRP6, an adenosine-5"-triphosphate-binding cassette transmembrane transporter protein primarily expressed in the liver and the kidneys.
There are over 200 reported mutations of the PXE gene ABCC6
, located on chromosome 16.
Piehler, "Copy number variations of the ATP-binding cassette transporter ABCC6
gene and its pseudogenes," BMC Research Notes, vol.
Boyd, "The distribution of Abcc6
in normal mouse tissues suggests multiple functions for this ABC transporter," Journal of Histochemistry and Cytochemistry, vol.
De los 17 genes restantes asociados al fenotipo HLFC contenidos en el modulo URFA, tres de ellos tienen funciones conocidas en el metabolismo lipidico (ABCC6
, AKT2, HSD11B1) y uno mas que puede estar relacionado por su homologia con otra enzima (PNPLA4).
Acute myocardial infarction and a new ABCC6
mutation in a 16-year-old boy with pseudoxanthoma elasticum.
Katagiri and colleagues demonstrate in 20 patients with angioid streaks that ABCC6
variants play a significant role in affected Japanese individuals.
The mode of inheritance is autosomal recessive and responsible gene has been identified as adenosine triphosphate- binding cassette (ABC) subfamily C member 6 (ABCC6
) gene, encoding multidrug resistant protein 6 (MDR6).1,2 Mutation in this gene causes progressive fragmentation and calcification of elastic tissue.