Description
| Product Name: | Human DNAJC19 Recombinant Protein |
| Product Code: | RPPB5207 |
| Size: | 25µg |
| Species: | Human |
| Target: | DNAJC19 |
| Synonyms: | Mitochondrial import inner membrane translocase subunit TIM14, DnaJ homolog subfamily C member 19, DNAJC19, TIM14, TIMM14, Pam18. |
| Source: | Escherichia Coli |
| Physical Appearance: | Sterile Filtered colorless solution. |
| Formulation: | The DNAJC19 solution (1 mg/ml) contains 20mM Tris-HCl buffer (pH 8.0), 10% glycerol, 2mM DTT and 0.1M NaCl. |
| Stability: | Store at 4°C if entire vial will be used within 2-4 weeks. Store, frozen at -20°C for longer periods of time. For long term storage it is recommended to add a carrier protein (0.1% HSA or BSA).Avoid multiple freeze-thaw cycles. |
| Purity: | Greater than 90.0% as determined by SDS-PAGE. |
| Amino Acid Sequence: | MRGSHHHHHH GMASMTGGQQ MGRDLYDDDD KDRWGSMGRY VLQAMKHMEP QVKQVFQSLP KSAFSGGYYR GGFEPKMTKR EAALILGVSP TANKGKIRDA HRRIMLLNHP DKGGSPYIAA KINEAKDLLE GQAKK |
DNAJC19 is part of a complex involved in the ATP-dependent transport of transit peptide-containing proteins from the inner cell membrane to the mitochondrial matrix. DNAJC19 is a single-pass membrane protein which contains a J domain and is localized to the inner membrane of the mitochondrion. Expressed ubiquitously, DNAJC19 acts as a component of the mitochondrial DNAJC19 complex that is responsible for the ATP-dependent translocation of select proteins from the inner mitochondrial membrane to the mitochondrial matrix. Defects in the DNAJC19 gene are the cause of 3-methylglutaconic aciduria type 5 (MGA5), otherwise known as dilated cardiomyopathy with ataxia (DCMA).
DNAJC19 Human Recombinant fused with a�37 amino acid His tag at N-terminus produced in E.Coli is a single, non-glycosylated, polypeptide chain containing 135 amino acids (19-116 a.a.) and having a molecular mass of 15.1kDa. The DNAJC19 is purified by proprietary chromatographic techniques.
| UniProt Protein Function: | 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. |
| UniProt Protein Details: | Protein type:Membrane protein, integral; Chaperone; Mitochondrial 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; protein folding; visual perception; protein targeting to mitochondrion Disease: 3-methylglutaconic Aciduria, Type V |
| NCBI 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] |
| UniProt Code: | Q96DA6 |
| NCBI GenInfo Identifier: | 74760780 |
| NCBI Gene ID: | 131118 |
| NCBI Accession: | Q96DA6.3 |
| UniProt Secondary Accession: | Q96DA6,B2R4B1, C9JBV1, |
| UniProt Related Accession: | Q96DA6 |
| Molecular Weight: | 116 |
| NCBI Full Name: | Mitochondrial import inner membrane translocase subunit TIM14 |
| NCBI Synonym Full Names: | DnaJ (Hsp40) homolog, subfamily C, member 19 |
| NCBI Official Symbol: | DNAJC19�� |
| NCBI Official Synonym Symbols: | PAM18; TIM14; TIMM14�� |
| NCBI Protein Information: | mitochondrial import inner membrane translocase subunit TIM14; homolog of yeast TIM14 |
| UniProt Protein Name: | Mitochondrial import inner membrane translocase subunit TIM14 |
| UniProt Synonym Protein Names: | DnaJ homolog subfamily C member 19 |
| UniProt Gene Name: | DNAJC19�� |
| UniProt Entry Name: | TIM14_HUMAN |
