Gene Symbol | DNAJB2 |
Entrez Gene ID | 3300 |
Full Name | DnaJ heat shock protein family (Hsp40) member B2 |
Synonyms | CMT2T,DSMA5,HSJ-1,HSJ1,HSPF3 |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene is almost exclusively expressed in the brain, mainly in the neuronal layers. It encodes a protein that shows sequence similarity to bacterial DnaJ protein and the yeast homologs. In bacteria, this protein is implicated in protein folding and protein complex dissociation. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2011]. |
Disorder MIM: | |
Disorder Html: | Spinal muscular atrophy, distal, autosomal recessive, 5, 614881 (3) |