GENETIC ENCYCLOPEDIA
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gene: ABCB10

id23456
symbolABCB10
organismHomo sapiens
full nameATP binding cassette subfamily B member 10
summaryThe membrane-associated 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 MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. The function of this mitochondrial protein is unknown. [provided by RefSeq, Jul 2008]
variant-disease

GRCh37/hg19 1q42.13(chr1:229652563-229653629)x4 AND not provided

GRCh37/hg19 1q42.13(chr1:229693768-229694600)x1 AND not provided

GRCh37/hg19 1q42.12-42.13(chr1:226871745-229906954)x1 AND See cases

GRCh38/hg38 1q42.12-42.13(chr1:225382172-230418801)x1 AND See cases

GRCh38/hg38 1q42.12-42.2(chr1:226185124-232872488)x1 AND See cases

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