LP64926-6
ABCB4 gene
Active
Description
The ABCB4 gene (ATP-binding cassette, sub-family B (MDR/TAP), member 4) [HGNC Gene ID:45] is located on chromosome 7q21.1. 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] [NCBI Gene ID:5244] Source: National Center for Biotechnology Information (NCBI) Gene
Reference Information
| Type | Source | Reference |
|---|---|---|
| Webcontent | Online Mendelian Inheritance in Man®Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. | Link to OMIM |
Basic Part Properties
- Part Name
- ABCB4 gene
- Part Display Name
- ABCB4 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2007-08-20
- Construct for LOINC Short Name
- ABCB4 gene
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | ABCB4 基因 Synonyms: ABC21; |
| et-EE | Estonian (Estonia) | ABCB4 geen |
| es-ES | Spanish (Spain) | Gen ABCB4 |
| it-IT | Italian (Italy) | ABCB4, gene Synonyms: Gene ABCB4 |
| tr-TR | Turkish (Turkey) | ABCB4 geni |
| ru-RU | Russian (Russian Federation) | ABCB4 ген |
| nl-NL | Dutch (Netherlands) | ABCB4-gen Synonyms: ABCB4 gen |
| fr-FR | French (France) | ABCB4 gène |
| pl-PL | Polish (Poland) | ABCB4 gen Synonyms: Gen ABCB4 |
| el-GR | Greek (Greece) | Γονίδιο ABCB4 Synonyms: Γονίδιο ABCB4 |
LOINC Copyright
Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://