Gene Symbol | ABCC6 |
Entrez Gene ID | 368 |
Full Name | ATP binding cassette subfamily C member 6 |
Synonyms | ABC34,ARA,EST349056,GACI2,MLP1,MOAT-E,MOATE,MRP6,PXE,PXE1,URG7 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | The 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). The encoded protein, a member of the MRP subfamily, is involved in multi-drug resistance. Mutations in this gene cause pseudoxanthoma elasticum. Alternatively spliced transcript variants that encode different proteins have been described for this gene. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Pseudoxanthoma elasticum, 264800 (3); Pseudoxanthoma elasticum, forme fruste, 177850 (3); Arterial calcification, generalized, of infancy, 2, 614473 (3) |