ABCC6


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ABCC6

ATP-binding cassette sub-family C (CFTR/MRP) member 6. A gene on 16p13.1 that encodes a protein of the superfamily of ATP-binding cassette (ABC) transporters, which transport various molecules across extra- and intra-cellular membranes.

Significance
The encoded protein is involved in multi-drug resistance; mutations in ABCC6 cause pseudoxanthoma elasticum.
References in periodicals archive ?
The strong expression of ABCC6 in liver and kidney, organs not primarily affected by PXE, lead to the assumption that PXE is a systemic disease (38).
ABCC6 mutations in Italian families affected by pseudoxanthoma elasticum (PXE).
Characteristic for PXE is a great variability in the clinical course and phenotype of PXE, even among patients with the same or functionally similar ABCC6 mutations.
The abcc6 gene has just been excluded, however, emphasizing that only the N-terminal part of the gene was screened for sequence variations and that most PXE-associated ABCC6 mutations were found in the C-terminal part (5, 6, 34).
The 16-kb deletion spanning exons 23 to 29 of the ABCC6 gene was identified in the heterozygous state in 9 PXE patients.
Because 27 of the 53 investigated relatives were identified as heterozygous carriers of 1 ABCC6 mutation, we divided this group into symptom-free carriers and symptom-free noncarriers and reanalyzed the obtained data.