Gene Symbol | DNAJB6 |
Entrez Gene ID | 10049 |
Full Name | DnaJ heat shock protein family (Hsp40) member B6 |
Synonyms | DJ4,DnaJ,HHDJ1,HSJ-2,HSJ2,LGMD1D,LGMD1E,MRJ,MSJ-1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a member of the DNAJ protein family. DNAJ family members are characterized by a highly conserved amino acid stretch called the 'J-domain' and function as one of the two major classes of molecular chaperones involved in a wide range of cellular events, such as protein folding and oligomeric protein complex assembly. This family member may also play a role in polyglutamine aggregation in specific neurons. Alternative splicing of this gene results in multiple transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Muscular dystrophy, limb-girdle, type 1E, 603511 (3) |