DNAJC19 cdna clone
DNAJC19 cDNA Clone
NCBI and Uniprot Product Information
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: Mitochondrial; Membrane protein, integral; Chaperone
Chromosomal Location of Human Ortholog: 3q26.33
Cellular Component: mitochondrial inner membrane; mitochondrion; protein complex
Molecular Function: protein binding
Biological Process: genitalia development; visual perception
Disease: 3-methylglutaconic Aciduria, Type V
Research Articles on DNAJC19
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Product Notes
The DNAJC19 dnajc19 (Catalog #AAA1266406) is a cDNA Clone and is intended for research purposes only. The product is available for immediate purchase. The amino acid sequence is listed below: atggccagta cagtggtagc agttggactg accattgctg ctgcaggatt tgcaggccgt tacgttttgc aagccatgaa gcatatggag cctcaagtaa aacaagtttt tcaaagccta ccaaaatctg ccttcagtgg tggctattat agaggtgggt ttgaacccaa aatgacaaaa cgggaagcag cattaatact aggtgtaagc cctactgcca ataaagggaa aataagagat gctcatcgac gaattatgct tttaaatcat cctgacaaag gaggctctcc ttatatagca gccaaaatca atgaagctaa agatttacta gaaggtcaag ctaaaaaatg a. It is sometimes possible for the material contained within the vial of "DNAJC19, cDNA Clone" 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.Precautions
All products in the AAA Biotech catalog are strictly for research-use only, and are absolutely not suitable for use in any sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a product from AAA Biotech, you are explicitly certifying that said products will be properly tested and used in line with industry standard. AAA Biotech and its authorized distribution partners reserve the right to refuse to fulfill any order if we have any indication that a purchaser may be intending to use a product outside of our accepted criteria.Disclaimer
Though we do strive to guarantee the information represented in this datasheet, AAA Biotech cannot be held responsible for any oversights or imprecisions. AAA Biotech reserves the right to adjust any aspect of this datasheet at any time and without notice. It is the responsibility of the customer to inform AAA Biotech of any product performance issues observed or experienced within 30 days of receipt of said product. To see additional details on this or any of our other policies, please see our Terms & Conditions page.Item has been added to Shopping Cart
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