• THAT   AND
  • THAT   AND


Sequence in raw or FASTA format:

Database:

Blast Method:

 
 


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), mRNA. GenEZ ORF Cloning In-stock $509.00 $460.00 12
XM_006714118 PREDICTED: Homo sapiens methylmalonic aciduria (cobalamin deficiency) cblA type (MMAA), transcript variant X1, mRNA. GenEZ ORF Cloning On-demand $699.00 18

*Business Day

Related Services

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?

What is the normal function of the MMAA gene?

The MMAA gene provides instructions for making a protein that is involved in the formation of a compound called adenosylcobalamin (AdoCbl). AdoCbl, which is derived from vitamin B12 (also called cobalamin), is necessary for the normal function of an enzyme known as methylmalonyl CoA mutase. This enzyme helps break down certain proteins, fats (lipids), and cholesterol.

Research indicates that the MMAA protein may play a role in one of the last steps in AdoCbl formation, the transport of vitamin B12 into mitochondria (specialized structures inside cells that serve as energy-producing centers). Additional chemical reactions then convert vitamin B12 into AdoCbl. Other studies suggest that the MMAA protein may help stabilize methylmalonyl CoA mutase and protect the enzyme from being turned off (inactivated).

Interactant

Our customer service representatives are available 24 hours a day, Monday through Friday; please contact us anytime for assistance.