ABCB4 - Gene Detail
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| Gene Symbol | ABCB4 | ||||||||||
| Synonyms | ABC21 | GBD1 | ICP3 | MDR2 | MDR2/3 | MDR3 | PFIC-3 | PGY3 | ||||||||||
| Gene Description | ABCB4, ATP binding cassette subfamily B member 4, also referred to as MDR3, is a member of the ABC transporter superfamily (PMID: 16305368), and functions as a phospholipid translocator in hepatocytes (PMID: 16622704, PMID: 31873305), specifically mediating the transport of phosphatidylcholine (PMID: 8898203). Mutations in ABCB4 have been identified in cholangiocarcinoma (PMID: 22387667, PMID: 31181191), and epigenetic silencing of ABCB4 has been identified in several tumor types including lung cancer and breast cancer (PMID: 25367630). | ||||||||||
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