NCBI Description
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 Description
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: Chaperone; Mitochondrial; Membrane protein, integral
Chromosomal Location of Human Ortholog: 3q26.33
Cellular Component: protein complex; mitochondrion; mitochondrial inner membrane; integral to membrane
Molecular Function: protein binding
Biological Process: genitalia development; cellular protein metabolic process; visual perception; protein folding; protein targeting to mitochondrion
Disease: 3-methylglutaconic Aciduria, Type V
Product Notes
The DNAJC19 dnajc19 (Catalog #
AAA6130976) is an Antibody produced from Mouse and is intended for research purposes only. The product is available for immediate purchase. The DNAJC19 (Mitochondrial Import Inner Membrane Translocase Subunit TIM14, DnaJ Homolog Subfamily C Member 19, TIMM14, TIM14) (AP) reacts with Human and may cross-react with other species as described in the data sheet. AAA Biotech's DNAJC19 can be used in a range of immunoassay formats including, but not limited to, ELISA (EIA), Western Blot (WB). Applications are based on unconjugated antibody. Researchers should empirically determine the suitability of the DNAJC19 dnajc19 for an application not listed in the data sheet. Researchers commonly develop new applications and it is an integral, important part of the investigative research process.
It is sometimes possible for the material contained within the vial of
"DNAJC19, Monoclonal Antibody" to become dispersed throughout the inside of
the vial, particularly around the seal of said vial, during shipment and storage. We always
suggest centrifuging these vials
to consolidate all of the liquid away from the lid and to the bottom of the vial prior to
opening. Please be advised that
certain products may require dry ice for shipping and that, if this is the case, an
additional dry ice fee may also be
required.
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and its authorized distribution partners reserve the right to refuse to fulfill any order if
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purchaser may be intending to use a product outside of our accepted criteria.
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