ALQ34320.1
[Other Products]
UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
10,079 Da
NCBI Official Full Name
DnaJ-like protein subfamily C member 19 isoform 2
NCBI Official Synonym Full Names
DnaJ heat shock protein family (Hsp40) member C19
NCBI Protein Information
mitochondrial import inner membrane translocase subunit TIM14
UniProt Protein Name
Mitochondrial import inner membrane translocase subunit TIM14
UniProt Synonym Protein Names
DnaJ homolog subfamily C member 19
UniProt Synonym Gene Names
UniProt Entry Name
TIM14_HUMAN
NCBI Summary for DNAJC19
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]
UniProt Comments for DNAJC19
DNAJC19: Probable 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. Defects in DNAJC19 are the cause of 3-methylglutaconic aciduria type 5 (MGA5); also known as dilated cardiomyopathy with ataxia (DCMA). MGA5 is 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. Belongs to the TIM14 family.
Protein type: Mitochondrial; Membrane protein, integral; Chaperone
Chromosomal Location of Human Ortholog: 3q26.33
Cellular Component: integral to membrane; mitochondrial inner membrane; mitochondrion; protein complex
Molecular Function: protein binding
Biological Process: genitalia development; protein folding; protein targeting to mitochondrion; visual perception
Disease: 3-methylglutaconic Aciduria, Type V
Research Articles on DNAJC19
Precautions
All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.
Disclaimer
While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice. It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.
Pathways associated with anti-DNAJC19 antibody
Diseases associated with anti-DNAJC19 antibody
Organs/Tissues associated with anti-DNAJC19 antibody
|