Human

Human Kidney Gene DataBase

Name ATP-binding cassette, sub-family C (CFTR/MRP), member 6
Symbol ABCC6
Aliases ARA; PXE; MLP1; MRP6; ABC34; MOATE; EST349056; anthracycline resistance-associated
Gene Product
  • ATP-binding cassette, sub-family C, member 6
Category
UniGene Hs.442182 
Reference Sequence
mRNA: NM_001171 Protein: NP_001162
OMIM and SNP
OMIM: 603234 SNP: NCBI SNP
Locus
LocusLink: 368Chromosome: 16Cytoband: 16p13.1 UCSC Genome Map Eesembl Genome Map
SummaryThe 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). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein functions as a modulator of ATP-sensitive potassium channels and insulin release. Mutations and deficiencies in this protein have been observed in patients with hyperinsulinemic hypoglycemia of infancy, an autosomal recessive disorder of unregulated and high insulin secretion. Mutations have also been associated with non-insulin-dependent diabetes mellitus type II, an autosomal dominant disease of defective insulin secretion. Alternative splicing of this gene has been observed; however, the transcript variants have not yet been fully described.
Gene Ontology
Expression
EST (46 ESTs, 24 libraries)
Tissue Breadth ? CPM ?
brainBreadth of expression: 1 out of  759 libraries express this gene (0.13%)Average CPM:213.13
cartilageBreadth of expression: 1 out of  16 libraries express this gene (6.25%)Average CPM:4.15
colonBreadth of expression: 2 out of  930 libraries express this gene (0.22%)Average CPM:40.71
eyeBreadth of expression: 1 out of  24 libraries express this gene (4.17%)Average CPM:0.81
kidneyBreadth of expression: 3 out of  145 libraries express this gene (2.07%)Average CPM:2.50
liverBreadth of expression: 1 out of  65 libraries express this gene (1.54%)Average CPM:4.48
lungBreadth of expression: 3 out of  334 libraries express this gene (0.90%)Average CPM:45.57
mammary glandBreadth of expression: 1 out of  1038 libraries express this gene (0.10%)Average CPM:50.91
muscleBreadth of expression: 1 out of  83 libraries express this gene (1.20%)Average CPM:2.03
nervousBreadth of expression: 1 out of  21 libraries express this gene (4.76%)Average CPM:44.19
skinBreadth of expression: 1 out of  38 libraries express this gene (2.63%)Average CPM:1.74
stomachBreadth of expression: 1 out of  310 libraries express this gene (0.32%)Average CPM:2.03
testisBreadth of expression: 1 out of  180 libraries express this gene (0.56%)Average CPM:0.50
uncharacterized tissueBreadth of expression: 3 out of  1739 libraries express this gene (0.17%)Average CPM:15.54
EvidenceAmplification in Kidney Neoplasms

Other key publications related to this gene


© 2004, KGDB, All Rights Reserved.
Department of Urology
University of California, San Francisco