LP71420-1
FKTN gene
Active
Description
The FKTN gene (fukutin) [HGNC Gene ID:3622] is located on chromosome 9q31.2. The protein encoded by this gene is a putative transmembrane protein that is localized to the cis-Golgi compartment, where it may be involved in the glycosylation of alpha-dystroglycan in skeletal muscle. The encoded protein is thought to be a glycosyltransferase and could play a role in brain development. Defects in this gene are a cause of Fukuyama-type congenital muscular dystrophy (FCMD), Walker-Warburg syndrome (WWS), limb-girdle muscular dystrophy type 2M (LGMD2M), and dilated cardiomyopathy type 1X (CMD1X). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2010] [NCBI Gene ID:2218] 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
- FKTN gene
- Part Display Name
- FKTN gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2008-10-01
- Construct for LOINC Short Name
- FKTN gene
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | FKTN 基因 Synonyms: CMD1X; |
| et-EE | Estonian (Estonia) | FKTN geen |
| es-ES | Spanish (Spain) | Gen FKTN |
| it-IT | Italian (Italy) | FKTN, gene Synonyms: Gene FKTN |
| tr-TR | Turkish (Turkey) | FKTN geni |
| ru-RU | Russian (Russian Federation) | FKTN ген |
| nl-NL | Dutch (Netherlands) | FKTN-gen Synonyms: FKTN gen |
| fr-FR | French (France) | FKTN gène |
| pl-PL | Polish (Poland) | FKTN gen Synonyms: Gen FKTN |
| el-GR | Greek (Greece) | Γονίδιο FKTN Synonyms: Γονίδιο FKTN |
LOINC Copyright
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