Version 2.78

Description

The DMD gene (dystrophin) [HGNC Gene ID:2928] is located on chromosome Xp21.2. The dystrophin gene is the largest gene found in nature, measuring 2.4 Mb. The gene was identified through a positional cloning approach, targeted at the isolation of the gene responsible for Duchenne (DMD) and Becker (BMD) Muscular Dystrophies. DMD is a recessive, fatal, X-linked disorder occurring at a frequency of about 1 in 3,500 new-born males. BMD is a milder allelic form. In general, DMD patients carry mutations which cause premature translation termination (nonsense or frame shift mutations), while in BMD patients dystrophin is reduced either in molecular weight (derived from in-frame deletions) or in expression level. The dystrophin gene is highly complex, containing at least eight independent, tissue-specific promoters and two polyA-addition sites. Furthermore, dystrophin RNA is differentially spliced, producing a range of different transcripts, encoding a large set of protein isoforms. Dystrophin (as encoded by the Dp427 transcripts) is a large, rod-like cytoskeletal protein which is found at the inner surface of muscle fibers. Dystrophin is part of the dystrophin-glycoprotein complex (DGC), which bridges the inner cytoskeleton (F-actin) and the extra-cellular matrix. [provided by RefSeq, Jul 2008] [NCBI Gene ID:1756] 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
DMD gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2000-05-04
Construct for LOINC Short Name
DMD gene

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Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) DMD 基因
Synonyms: BMD;DXS142;DXS164;DXS206;DXS230;DXS239;DXS268;DXS269;DXS270;DXS272;Dystrophin;假肥大性进行性肌肉萎缩;假肥大性进行性肌肉营养不良;抗肌肉萎缩蛋白;抗肌萎缩蛋白;抗肌萎缩蛋白(Dystrophin);抗肌营养不良蛋白;抗肌营养不良蛋白(Dystrophin);杜兴肌营养不良;肌肉萎缩症, Duchenne 与 Becker 型;肌肉营养不良症, Duchenne 与 Becker型;胞膜支架蛋白 Dystrophin
et-EE Estonian (Estonia) DMD geen
es-ES Spanish (Spain) Gen de la Distrofia muscular (DMD)
it-IT Italian (Italy) DMD, gene
Synonyms: Gene DMD
tr-TR Turkish (Turkey) DMD geni
ru-RU Russian (Russian Federation) DMD ген
nl-NL Dutch (Netherlands) DMD-gen
Synonyms: DMD gen