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


RefSeq Accession Definition Services Price Order
NM_172250 Homo sapiens methylmalonic aciduria (cobalamin deficiency) cblA type (MMAA), nuclear gene encoding mitochondrial protein, mRNA. ORF Sequence $364.53
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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)
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 Full Length $2674.35
ORF Sequence $364.53
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
PDB 2WWW
UniProt Q8IVH4
MIM 607481
Ensembl ENSG00000151611
HGNC 18871
HPRD 07394

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

General protein information

Interactant

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