DNAJC19

DNAJC19 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).

Full Name

DnaJ (Hsp40) homolog, subfamily C, member 19

Function

Mitochondrial co-chaperone which forms a complex with prohibitins to regulate cardiolipin remodeling (By similarity).

May be a component of the PAM complex, a complex required for the translocation of transit peptide-containing proteins from the inner membrane into the mitochondrial matrix in an ATP-dependent manner. May act as a co-chaperone that stimulate the ATP-dependent activity (By similarity).

Biological Process

Genitalia development Source: UniProtKB
Protein folding Source: UniProtKB
Protein import into mitochondrial matrix Source: GO_Central
Protein targeting to mitochondrion Source: UniProtKB
Regulation of cardiolipin metabolic process Source: UniProtKB
Visual perception Source: UniProtKB

Cellular Location

Mitochondrion inner membrane

Involvement in disease

3-methylglutaconic aciduria 5 (MGCA5):
An autosomal recessive disorder characterized by early-onset dilated cardiomyopathy, growth failure, cerebellar ataxia causing significant motor delays, testicular dysgenesis, growth failure and significant increases in urine organic acids, particularly 3-methylglutaconic acid and 3-methylglutaric acid.

Topology

Mitochondrial intermembrane: 2-3
Helical: 4-24
Mitochondrial matrix: 25-116