Product Name
MCCC1, cDNA Clone
Full Product Name
MCCC1 cDNA Clone
Product Gene Name
MCCC1 cdna clone
[Similar Products]
Research Use Only
For Research Use Only. Not for use in diagnostic procedures.
Sequence
atggcggcgg cctctgcggt gtcggtgctg ctggtggcgg cggagaggaa ccggtggcat cgtctcccga gcctgctcct gccgccgagg acatgggtgt ggaggcaaag aaccatgaag tacacaacag ccacaggaag aaacattacc aaggtcctca ttgcaaacag aggagaaatt gcctgcaggg tgatgcgcac agccaaaaaa ctgggtgtac agactgtggc ggtttatagt gaggctgaca gaaattccat gcatgtagat atggcagatg aagcatattc catcggcccc gctccctccc agcagagcta cctatctatg gagaaaatca ttcaagtggc caagacctct gctgcacagg ctatccatcc aggatgcggt tttctttcag aaaacatgga atttgctgaa ctttgtaagc aagaaggaat tatttttata ggccctcctc catctgcaat tagagacatg ggtataaaga gcacatccaa atccataatg gctgctgctg gagtacctgt tgtggagggt tatcatggtg aggaccaatc agaccagtgc ctgaaggaac acgccaggag aattggctat cctgtcatga ttaaagccgt ccggggtgga ggaggaaaag gaatgaggat tgttagatca gaacaagaat ttcaagaaca gttagagtca gcacggagag aagctaagaa gtctttcaat gatgatgcta tgctgatcga gaagtttgta gacacaccga ggcatgtaga agtccaggtg tttggtgatc accatggcaa tgctgtgtac ttgtttgaaa gagactgtag tgtgcagagg cgacatcaga agatcattga ggaggcccca gcgcctggta ttaaatctga agtaagaaaa aagctgggag aagctgcagt cagagctgct aaagctgtaa attatgttgg agcagggact gtggagttta ttatggactc aaaacataat ttctgtttca tggagatgaa tacaaggctg caagtggaac atcctgttac tgagatgatc acaggaactg acttggtgga gtggcagctt agaattgcag caggagagaa gattcctttg agccaggaag aaataactct gcagggccat gccttcgaag ctagaatata tgcagaagat cctagcaata acttcatgcc tgtggcaggc ccattagtgc acctctctac tcctcgagca gacccttcca ccaggattga aactggagta cggcaaggag acgaagtttc cgtgcattat gaccccatga ttgcgaagct ggtcgtgtgg gcagcagatc gccaggcggc attgacaaaa ctgaggtaca gccttcgtca gtacaatatt gttggactgc ccaccaacat tgacttctta ctcaacctgt ctggccaccc agagtttgaa gctgggaacg tgcacactga tttcatccct caacaccaca aacagttgtt gctcagtcgg aaggctgcag ccaaagagtc tttatgccag gcagccctgg gtctcatcct caaggagaaa gccatgaccg acactttcac tcttcaggca catgatcaat tctctccatt ttcgtctagc agtggaagaa gactgaatat ctcgtatacc agaaacatga ctcttaaaga tggtaaaaac aatgtagcca tagctgtaac gtataaccat gatgggtctt atagcatgca gattgaagat aaaactttcc aagtccttgg taatctttac agcgagggag actgcactta cctgaaatgt tctgttaatg gagttgctag taaagcgaag ctgattatcc tggaaaacac tatttaccta ttttccaagg aaggaagtat tgagattgac attccagtcc ccaaatactt atcttctgtg agctcacaag aaactcaggg cggcccctta gctcctatga ctggaaccat tgaaaaggtg tttgtcaaag ctggagacaa agtgaaagcg ggagattccc tcatggttat gatcgccatg aagatggagc ataccataaa gtctccaaag gatggcacag taaagaaagt gttctacaga gaaggtgctc aggccaacag acacactcct ttagtcgagt ttgaggagga agaatcagac aaaagggaat cggaataa
Clone Sequence Report
Provided with product shipment
ISO Certification
Manufactured in an ISO 13485:2003 and EN ISO 13485:2012 Certified Laboratory.
Other Notes
Small volumes of MCCC1 cdna clone vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.
NCBI/Uniprot data below describe general gene information for MCCC1. It may not necessarily be applicable to this product.
NCBI Accession #
BC004187
[Other Products]
UniProt Secondary Accession #
Q59ES4; Q9H959; Q9NS97[Other Products]
UniProt Related Accession #
Q96RQ3[Other Products]
Molecular Weight
80,473 Da
NCBI Official Full Name
Homo sapiens methylcrotonoyl-Coenzyme A carboxylase 1 (alpha), mRNA
NCBI Official Synonym Full Names
methylcrotonoyl-CoA carboxylase 1
NCBI Official Symbol
MCCC1??[Similar Products]
NCBI Official Synonym Symbols
MCCA; MCC-B
??[Similar Products]
NCBI Protein Information
methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial
UniProt Protein Name
Methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial
UniProt Synonym Protein Names
3-methylcrotonyl-CoA carboxylase 1; 3-methylcrotonyl-CoA carboxylase biotin-containing subunit; 3-methylcrotonyl-CoA:carbon dioxide ligase subunit alpha
UniProt Gene Name
MCCC1??[Similar Products]
UniProt Synonym Gene Names
MCCA; MCCase subunit alpha??[Similar Products]
UniProt Entry Name
MCCA_HUMAN
NCBI Summary for MCCC1
This gene encodes the large subunit of 3-methylcrotonyl-CoA carboxylase. This enzyme functions as a heterodimer and catalyzes the carboxylation of 3-methylcrotonyl-CoA to form 3-methylglutaconyl-CoA. Mutations in this gene are associated with 3-Methylcrotonylglycinuria, an autosomal recessive disorder of leucine catabolism. [provided by RefSeq, Jul 2008]
UniProt Comments for MCCC1
MCCC1: Defects in MCCC1 are the cause of methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D). An autosomal recessive disorder of leucine catabolism. The phenotype is variable, ranging from neonatal onset with severe neurological involvement to asymptomatic *****s. There is a characteristic organic aciduria with massive excretion of 3-hydroxyisovaleric acid and 3-methylcrotonylglycine, usually in combination with a severe secondary carnitine deficiency.
Protein type: EC 6.4.1.4; Ligase; Amino Acid Metabolism - valine, leucine and isoleucine degradation; Mitochondrial
Chromosomal Location of Human Ortholog: 3q27
Cellular Component: cytosol; mitochondrial matrix; mitochondrion
Molecular Function: methylcrotonoyl-CoA carboxylase activity; protein binding
Biological Process: biotin metabolic process; branched chain family amino acid catabolic process; leucine catabolic process
Disease: 3-methylcrotonyl-coa Carboxylase 1 Deficiency
Research Articles on MCCC1
1. A and c.639+5G>T) were also characterized.">Novel mutations in MCCC1 gene were identified in Chinese population. The expression profiles of two splice mutations (c.639+2T>A and c.639+5G>T) were also characterized.
Precautions
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Disclaimer
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