Reference Gene
| Gene name | Alias | Species | Exons | Type | Paralogs | EC number | OMIM |
|---|---|---|---|---|---|---|---|
| ABCB4 ATP binding cassette subfamily B member 4 | GBD1 , ICP3 , MDR2 , MDR3 , PGY3 , ABC21 , MDR2/3 , PFIC-3 | Homo sapiens | 34 | protein-coding | ABCB7 , ABCB6 , TAP1 , TAP2 , ABCB9 , ABCB11 , ABCB5 , ABCB1 , ABCB8 | 7.6.2.1 | 171060 |
Summary
The 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 as well as antigen presentation. This gene encodes a full transporter and member of the p-glycoprotein family of membrane proteins with phosphatidylcholine as its substrate. The function of this protein has not yet been determined; however, it may involve transport of phospholipids from liver hepatocytes into bile. Alternative splicing of this gene results in several products of undetermined function. [provided by RefSeq, Jul 2008]
Gene Loss events - ABCB4 (2 results)
| GL_ID | Species | Order | Gene Loss Mechanism | Loss Type | Lineage Specific | Citation |
|---|---|---|---|---|---|---|
| GL_UZ6OBK | Equus caballus | Perissodactyla | Other | Full | No | 10.1038/s41467-018-03667-1 |
| GL_ZNR2E4 | Cavia porcellus | Rodentia | Other | Full | No | 10.1038/s41467-018-03667-1 |