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MMAA methylmalonic aciduria (cobalamin deficiency) cblA type [Homo sapiens (human)]

RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_172250 Homo sapiens methylmalonic aciduria (cobalamin deficiency) cblA type (MMAA), nuclear gene encoding mitochondrial protein, mRNA. GenEZ ORF Cloning In-stock $509.00 $460.00 12

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Gene Symbol MMAA
Entrez Gene ID 166785
Full Name methylmalonic aciduria (cobalamin deficiency) cblA type
Synonyms MGC120010, MGC120011, MGC120012, MGC120013, cblA
Gene Type protein-coding
Organism Homo sapiens (human)



Summary The protein encoded by this gene is involved in the translocation of cobalamin into the mitochondrion, where it is used in the final steps of adenosylcobalamin synthesis. Adenosylcobalamin is a coenzyme required for the activity of methylmalonyl-CoA mutase. Defects in this gene are a cause of methylmalonic aciduria. [provided by RefSeq, Jul 2008].

MIM: 607481

Methylmalonic aciduria, vitamin B12-responsive, 251100 (3)

mRNA Protein Product Sequence Price Select
NM_172250, 171846260 NP_758454, 26892295 methylmalonic aciduria type A protein, mitochondrial precursor ORF Sequence $360.00
Homo sapiens (human)MMAANP_758454.1
Pan troglodytes (chimpanzee)MMAAXP_526697.2
Canis lupus familiaris (dog)MMAAXP_539752.3
Bos taurus (cattle)MMAANP_001093812.1
Mus musculus (house mouse)MmaaNP_598584.2
Rattus norvegicus (Norway rat)MmaaNP_001099644.1
Gallus gallus (chicken)MMAAXP_420429.1
Danio rerio (zebrafish)mmaaNP_001098582.1
Caenorhabditis elegansmmaa-1NP_001022302.1
GeneCards MMAA
UniProt Q8IVH4
MIM 607481
Ensembl ENSG00000151611
HGNC 18871
HPRD 07394

GeneRIFs: Gene References Into Functions What's a GeneRIF?

General protein information


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