Product Name
MMAB, cDNA Clone
Full Product Name
MMAB cDNA Clone
Product Gene Name
MMAB cdna clone
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Research Use Only
For Research Use Only. Not for use in diagnostic procedures.
Sequence
ATGGCTGTGT GCGGCCTGGG GAGCCGTCTT GGCCTGGGGA GCCGTCTTGG CCTGCAAGGG TGCTTCGGCG CCGCCAGGCT CCTGTATCCC CGTTTCCAGA GCCGCGGCCC TCAGGGCGTG GAAGACGGGG ACAGGCCACA GCCTTCCTCG AAGACACCCA GGATCCCCAA GATTTACACC AAAACGGGAG ACAAAGGGTT TTCTAGTACC TTCACAGGAG AAAGGAGACC CAAAGATGAC CAAGTGTTTG AAGCCGTGGG AACTACAGAT GAATTAAGTT CAGCTATTGG GTTTGCTCTG GAATTAGTCA CAGAAAAGGG CCATACATTT GCCGAAGAGC TTCAGAAAAT CCAGTGCACA TTGCAGGACG TCGGCTCGGC CCTGGCGACA CCATGCTCCT CGGCCCGGGA GGCTCACTTA AAGTATACCA CGTTCAAGGC GGGGCCCATC CTGGAGCTGG AGCAGTGGAT CGACAAGTAC ACCAGCCAGC TCCCACCACT CACGGCCTTC ATCCTGCCTT CGGGAGGCAA GATCAGCTCG GCGCTGCATT TCTGCCGGGC CGTGTGCCGC CGGGCCGAGA GACGTGTGGT GCCTCTTGTC CAGATGGGAG AGACCGATGC GAACGTGGCC AAGTTCTTAA ACAGACTCAG TGACTATCTC TTCACGCTAG CCAGATATGC AGCCATGAAG GAGGGGAATC AAGAGAAAAT ATACAAGAAA AATGACCCAT CGGCCGAGTC TGAGGGACTC TGA
ISO Certification
Manufactured in an ISO 13485:2003 and EN ISO 13485:2012 Certified Laboratory.
Other Notes
Small volumes of MMAB 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 MMAB. It may not necessarily be applicable to this product.
NCBI Accession #
BC005054
[Other Products]
UniProt Secondary Accession #
Q9BSH0; C5HU05[Other Products]
UniProt Related Accession #
Q96EY8[Other Products]
Molecular Weight
27,388 Da
NCBI Official Full Name
Homo sapiens methylmalonic aciduria (cobalamin deficiency) cblB type, mRNA
NCBI Official Synonym Full Names
methylmalonic aciduria (cobalamin deficiency) cblB type
NCBI Official Symbol
MMAB??[Similar Products]
NCBI Official Synonym Symbols
ATR; cob; cblB; CFAP23
??[Similar Products]
NCBI Protein Information
cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial
UniProt Protein Name
Cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial
UniProt Synonym Protein Names
Cob(I)alamin adenosyltransferase; Methylmalonic aciduria type B protein
UniProt Gene Name
MMAB??[Similar Products]
UniProt Entry Name
MMAB_HUMAN
NCBI Summary for MMAB
This gene encodes a protein that catalyzes the final step in the conversion of vitamin B(12) into adenosylcobalamin (AdoCbl), a vitamin B12-containing coenzyme for methylmalonyl-CoA mutase. Mutations in the gene are the cause of vitamin B12-dependent methylmalonic aciduria linked to the cblB complementation group. Alternatively spliced transcript variants have been found. [provided by RefSeq, Apr 2011]
UniProt Comments for MMAB
MMAB: Defects in MMAB are the cause of methylmalonic aciduria type cblB (MMAB); also known as methylmalonic aciduria type B or vitamin B12-responsive methylmalonicaciduria of cblB complementation type. MMAB is a disorder of methylmalonate and cobalamin metabolism due to defective synthesis of adenosylcobalamin. Inheritance is autosomal recessive. Belongs to the Cob(I)alamin adenosyltransferase family.
Protein type: Cofactor and Vitamin Metabolism - porphyrin and chlorophyll; Motility/polarity/chemotaxis; EC 2.5.1.17; Transferase
Chromosomal Location of Human Ortholog: 12q24
Cellular Component: mitochondrial matrix
Molecular Function: cob(I)yrinic acid a,c-diamide adenosyltransferase activity
Biological Process: cobalamin metabolic process
Disease: Methylmalonic Aciduria, Cblb Type
Research Articles on MMAB
1. A [p.C4X]), were identified in all members of the cblB cohort.">MMAB mutations, including one novel nonsense mutation (c.12 C>A [p.C4X]), were identified in all members of the cblB cohort.
Precautions
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Disclaimer
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