Gene Symbol | DNAJC19 |
Entrez Gene ID | 131118 |
Full Name | DnaJ heat shock protein family (Hsp40) member C19 |
Synonyms | PAM18,TIM14,TIMM14 |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | The protein encoded by this gene is thought to be part of a complex involved in the ATP-dependent transport of transit peptide-containing proteins from the inner cell membrane to the mitochondrial matrix. Defects in this gene are a cause of 3-methylglutaconic aciduria type 5 (MGA5), also known as dilated cardiomyopathy with ataxia (DCMA). Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 1, 2, 6, 10, 14 and 19. [provided by RefSeq, Jan 2012]. |
Disorder MIM: | |
Disorder Html: | 3-methylglutaconic aciduria, type V, 610198 (3) |