Gene Symbol | BVES |
Entrez Gene ID | 11149 |
Full Name | blood vessel epicardial substance |
Synonyms | HBVES,LGMD2X,POP1,POPDC1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a member of the POP family of proteins containing three putative transmembrane domains. This gene is expressed in cardiac and skeletal muscle and may play an important role in development of these tissues. The mouse ortholog may be involved in the regeneration of adult skeletal muscle and may act as a cell adhesion molecule in coronary vasculogenesis. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Dec 2010]. |
Disorder MIM: | |
Disorder Html: | ?Muscular dystrophy, limb-girdle, type 2X, 616812 (3) |