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


Clone ID RefSeq Accession Definition Vector Stock Status *Turnaround time Price Order
OHu26306 NM_172250 Homo sapiens methylmalonic aciduria (cobalamin deficiency) cblA type (MMAA), mRNA. pcDNA3.1+-DYK In-stock 5-7 $99.00
OHu26306 XM_006714118 PREDICTED: Homo sapiens methylmalonic aciduria (cobalamin deficiency) cblA type (MMAA), transcript variant X1, mRNA. pcDNA3.1+-DYK On-demand 7-9 $219.00
OHu26306C NM_172250 Homo sapiens methylmalonic aciduria (cobalamin deficiency) cblA type (MMAA), mRNA. Customized vector In-stock 5-7 $149.00
OHu26306C XM_006714118 PREDICTED: Homo sapiens methylmalonic aciduria (cobalamin deficiency) cblA type (MMAA), transcript variant X1, mRNA. Customized vector On-demand 7-9 $269.00

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Gene Symbol MMAA
Entrez Gene ID 166785
Full Name methylmalonic aciduria (cobalamin deficiency) cblA type
Synonyms cblA
General protein information
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

4

4q31.21

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].
Disorder

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
XM_006714118, 578808845 XP_006714181, 578808846 methylmalonic aciduria type A protein, mitochondrial isoform X1 ORF Sequence $550.00
Reactome
REACT_1473Mitochondrial Fatty Acid Beta-Oxidation
REACT_11238Metabolism of water-soluble vitamins and cofactors
REACT_11193Metabolism of vitamins and cofactors
REACT_22279Fatty acid, triacylglycerol, and ketone body metabolism
REACT_22258Metabolism of lipids and lipoproteins
REACT_993Propionyl-CoA catabolism
REACT_111217Metabolism
REACT_116125Disease
REACT_163862Cobalamin (Cbl, vitamin B12) transport and metabolism
REACT_169429Defects in cobalamin (B12) metabolism
REACT_169169Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC
REACT_169120Defective TCN2 causes hereditary megaloblastic anemia
REACT_169318Defective MMAB causes methylmalonic aciduria type cblB
REACT_169256Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD
REACT_169415Defective GIF causes intrinsic factor deficiency
REACT_169439Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE
REACT_169132Defective CUBN causes hereditary megaloblastic anemia 1
REACT_169280Defective AMN causes hereditary megaloblastic anemia 1
REACT_169313Defective MUT causes methylmalonic aciduria mut type
REACT_169312Defective HLCS causes multiple carboxylase deficiency
REACT_169363Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF
REACT_169149Defective MTR causes methylmalonic aciduria and homocystinuria type cblG
REACT_169316Defective MMAA causes methylmalonic aciduria type cblA
REACT_169178Defective CD320 causes methylmalonic aciduria
REACT_169385Defects in vitamin and cofactor metabolism
REACT_169238Defects in biotin (Btn) metabolism
REACT_169403Defective BTD causes biotidinase deficiency
Homo sapiens (human)MMAANP_758454.1
Pan troglodytes (chimpanzee)MMAAXP_526697.2
Canis lupus familiaris (dog)MMAAXP_539752.4
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
Xenopus (Silurana) tropicalis (western clawed frog)mmaaXP_002938979.1
Process
IDNameEvidence
GO:0006635fatty acid beta-oxidationTAS
GO:0006766vitamin metabolic processTAS
GO:0006767water-soluble vitamin metabolic processTAS
GO:0009235cobalamin metabolic processTAS
GO:0009236cobalamin biosynthetic processIEA
GO:0019626short-chain fatty acid catabolic processTAS
GO:0044255cellular lipid metabolic processTAS
GO:0044281small molecule metabolic processTAS
Component
IDNameEvidence
GO:0005759mitochondrial matrixTAS
Function
IDNameEvidence
GO:0005525GTP bindingIEA
GO:0017111nucleoside-triphosphatase activityIEA
GeneCards MMAA
PDB 2WWW
UniProt Q8IVH4
Vega OTTHUMG00000161369
MIM 607481
Ensembl ENSG00000151611
HGNC 18871
HPRD 07394

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

Interactant

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