LP71160-3
SLC25A4 gene
Active
Description
The SLC25A4 gene (solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4) [HGNC Gene ID:10990] is located on chromosome 4q35. This gene is a member of the mitochondrial carrier subfamily of solute carrier protein genes. The product of this gene functions as a gated pore that translocates ADP from the cytoplasm into the mitochondrial matrix and ATP from the mitochondrial matrix into the cytoplasm. The protein forms a homodimer embedded in the inner mitochondria membrane. Mutations in this gene have been shown to result in autosomal dominant progressive external opthalmoplegia and familial hypertrophic cardiomyopathy. [provided by RefSeq, Jun 2013] [NCBI Gene ID:291] 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
- SLC25A4 gene
- Part Display Name
- SLC25A4 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2008-09-19
- Construct for LOINC Short Name
- SLC25A4 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) | SLC25A4 基因 Synonyms: AAC1; |
| et-EE | Estonian (Estonia) | SLC25A4 geen |
| es-ES | Spanish (Spain) | Gen SLC25A4 |
| it-IT | Italian (Italy) | SLC25A4, gene Synonyms: Gene SLC25A4 |
| tr-TR | Turkish (Turkey) | SLC25A4 geni |
| ru-RU | Russian (Russian Federation) | SLC25A4 ген |
| nl-NL | Dutch (Netherlands) | SLC25A4-gen Synonyms: SLC25A4 gen |
| fr-FR | French (France) | SLC25A4 gène |
| pl-PL | Polish (Poland) | SLC25A4 gen Synonyms: Gen SLC25A4 |
| el-GR | Greek (Greece) | Γονίδιο SLC25A4 Synonyms: Γονίδιο SLC25A4 |
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://