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Human COQ9 Recombinant Protein (RPPB1503)

SKU:
RPPB1503
Product Type:
Recombinant Protein
Species:
Human
Uniprot:
O75208
Research Area:
Enzymes
€309
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Description

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Product Name:Human COQ9 Recombinant Protein
Product Code:RPPB1503
Size:20µg
Species:Human
Target:COQ9
Synonyms:Ubiquinone biosynthesis protein COQ9, mitochondrial, C16orf49,COQ10D5, C16orf49, HSPC326, PSEC0129.
Source:Escherichia Coli
Physical Appearance:Sterile Filtered colorless solution.
Formulation:COQ9 protein solution (1mg/ml) in Phosphate buffered saline (pH7.4), 10% glycerol and 1mM DTT.
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:MGSSHHHHHH SSGLVPRGSH MGSRSSDEQK QQPPNSFSQQ HSETQGAEKP DPESSHSPPR YTDQGGEEEEDYESEEQLQH RILTAALEFV PAHGWTAEAI AEGAQSLGLS SAAASMFGKD GSELILHFVT QCNTRLTRVLEEEQKLVQLG QAEKRKTDQF LRDAVETRLR MLIPYIEHWP RALSILMLPH NIPSSLSLLT SMVDDMWHYAGDQSTDFNWY TRRAMLAAIY NTTELVMMQD SSPDFEDTWR FLENRVNDAM NMGHTAKQVK STGEALVQGLMGAAVTLKNL TGLNQRR

Ubiquinone biosynthesis protein COQ9 (COQ9) represents a mitochondrial ubiquinone biosynthesis gene. The COQ9 protein is likely required for biosynthesis of coenzyme Q10, since mutations at this locus have been linked with autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency.

COQ9 Human Recombinant produced in E.Coli is a single, non-glycosylated polypeptide chain containing 297 amino acids (45-318 a.a) and having a molecular mass of 33.3kDa.COQ9 is fused to a 23 amino acid His-tag at N-terminus & purified by proprietary chromatographic techniques.

UniProt Protein Function:COQ9: Involved in the biosynthesis of coenzyme Q. Defects in COQ9 are the cause of coenzyme Q10 deficiency, primary, type 5 (COQ10D5). A form of coenzyme Q10 deficiency, an autosomal recessive disorder with variable manifestations consistent with 5 major phenotypes. The phenotypes include an encephalomyopathic form with seizures and ataxia; a multisystem infantile form with encephalopathy, cardiomyopathy and renal failure; a predominantly cerebellar form with ataxia and cerebellar atrophy; Leigh syndrome with growth retardation; and an isolated myopathic form. Belongs to the COQ9 family. 2 isoforms of the human protein are produced by alternative splicing.
UniProt Protein Details:

Protein type:Mitochondrial

Chromosomal Location of Human Ortholog: 16q21

Cellular Component: mitochondrial inner membrane; mitochondrion

Molecular Function:lipid binding; protein binding; protein homodimerization activity

Biological Process: ubiquinone biosynthetic process

Disease: Coenzyme Q10 Deficiency, Primary, 5

NCBI Summary:This locus represents a mitochondrial ubiquinone biosynthesis gene. The encoded protein is likely necessary for biosynthesis of coenzyme Q10, as mutations at this locus have been associated with autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency.[provided by RefSeq, Sep 2010]
UniProt Code:O75208
NCBI GenInfo Identifier:74735505
NCBI Gene ID:57017
NCBI Accession:O75208.1
UniProt Secondary Accession:O75208,Q7L5V7, Q7Z5T6, Q8NBL4, Q9NTJ2, Q9P056, A8K3L2
UniProt Related Accession:O75208
Molecular Weight:14,505 Da
NCBI Full Name:Ubiquinone biosynthesis protein COQ9, mitochondrial
NCBI Synonym Full Names:coenzyme Q9
NCBI Official Symbol:COQ9��
NCBI Official Synonym Symbols:COQ10D5; C16orf49��
NCBI Protein Information:ubiquinone biosynthesis protein COQ9, mitochondrial
UniProt Protein Name:Ubiquinone biosynthesis protein COQ9, mitochondrial
Protein Family:Ubiquinone biosynthesis protein
UniProt Gene Name:COQ9��
UniProt Entry Name:COQ9_HUMAN

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