LP33173-3
FSHD gene
Active
Description
The FSHD gene (facioscapulohumeral muscular dystrophy 1A) gene is located on chromosome 4q35. Facioscapulohumeral muscular dystrophy (FSHD) is a common hereditary disease of muscle. Patients with FSHD have a chromosomal rearrangement within the subtelomeric region of chromosome 4 (4q35). This region is composed mainly of a polymorphic repeat structure consisting of 3.3 kb repeat units, designated D4Z4. The number of repeat units varies from 10 to more than 100 in the population, however, in FSHD patients only 1-10 repeat units is observed because of a deletion of an integral number of these units. FSHD is caused by an epigenetic mechanism involving the contraction of a subtelomeric macrosatellite repeat, which results in marked hypomethylation of the contracted D4Z4 allele. It is likely not the structure, but the deregulation of transcription of one or more genes as a result of repeat-contraction-mediated chromatin alterations, that causes FSHD. [provided by RefSeq, Sep 2011] [NCBI Gene ID:2489] 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
- FSHD gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2004-02-13
- Construct for LOINC Short Name
- FSHD gene
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | FSHD 基因 Synonyms: Landouzy Dejerine 肌肉萎缩症; |
| et-EE | Estonian (Estonia) | FSHD geen |
| es-ES | Spanish (Spain) | Gen FSHD |
| it-IT | Italian (Italy) | FSHD, gene Synonyms: Gene FSHD |
| tr-TR | Turkish (Turkey) | FSHD geni |
| ru-RU | Russian (Russian Federation) | FSHD ген |
| nl-NL | Dutch (Netherlands) | FSHD-gen Synonyms: FSHD gen |
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