LP71403-7
ABCD1 gene
Active
Description
The ABCD1 gene (ATP-binding cassette, sub-family D (ALD), member 1) [HGNC Gene ID:61] is located on chromosome Xq28. 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). This protein is a member of the ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. This peroxisomal membrane protein is likely involved in the peroxisomal transport or catabolism of very long chain fatty acids. Defects in this gene have been identified as the underlying cause of adrenoleukodystrophy, an X-chromosome recessively inherited demyelinating disorder of the nervous system. [provided by RefSeq, Jul 2008] [NCBI Gene ID:215] 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 Display Name
- ABCD1 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2008-10-01
- Construct for LOINC Short Name
- ABCD1 gene
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | ABCD1 基因 Synonyms: ATP结合转运子超家族成员D1基因; |
| et-EE | Estonian (Estonia) | ABCD1 geen |
| es-ES | Spanish (Spain) | Gen ABCD1 |
| it-IT | Italian (Italy) | ABCD1, gene Synonyms: Gene ABCD1 |
| tr-TR | Turkish (Turkey) | ABCD1 geni |
| ru-RU | Russian (Russian Federation) | ABCD1 ген |
| nl-NL | Dutch (Netherlands) | ABCD1-gen Synonyms: ABCD1 gen |
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