Disease relevance of ABCC12

• In breast cancer, normal breast, and testis, the MRP9 gene transcript is 4.5 kb in size and encodes a 100-kDa protein [1].

High impact information on ABCC12

• Combining a computer-based screening strategy and functional genomics, we previously identified MRP9 (ABCC12), a member of the ATP-binding cassette (ABC) superfamily [1].
• We have recently reported on two novel human ABC transporters, ABCC11 and ABCC12, the genes of which are tandemly located on human chromosome 16q12.1 [Biochem. Biophys. Res. Commun. 288 (2001) 933] [2].
• Since ABCC11 and ABCC12 were mapped to a region harboring gene(s) for paroxysmal kinesigenic choreoathetosis, the two genes represent positional candidates for this disorder [3].
• By searching cDNA libraries from various human tissues, we have identified alternative splicing variants of ABCC11 and ABCC12 genes at significantly high frequencies [4].
• ABCC11 and ABCC12 genes consist of 30 and 29 exons, respectively, and they are tandemly located in a tail-to-head orientation on human chromosome 16q12 [4].

Biological context of ABCC12

• As expected, members of the Wnt and hedgehog pathways were found to be significantly different between BCC and normal specimens, as were many previously undescribed changes in gene expression between normal and BCC specimens, including basonuclin2 and mrp9 [5].

Anatomical context of ABCC12

• The transcripts of ABCC11 and ABCC12 genes were detected by PCR in various adult human tissues, including liver, lung, and kidney, and also in several fetal tissues [4].

Analytical, diagnostic and therapeutic context of ABCC12

• Because the 4.5-kb RNA is highly expressed in breast cancer and not expressed at detectable levels in essential normal tissues, MRP9 could be a useful target for the immunotherapy of breast cancer [1].

References