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Aliases for MMACHC Gene

Aliases for MMACHC Gene

  • Methylmalonic Aciduria (Cobalamin Deficiency) CblC Type, With Homocystinuria 2 3 5
  • Cyanocobalamin Reductase (Cyanide-Eliminating) 3 4
  • CblC 3 4
  • Methylmalonic Aciduria And Homocystinuria Type C Protein 3
  • EC 1.16.1.- 4

External Ids for MMACHC Gene

Previous GeneCards Identifiers for MMACHC Gene

  • GC01P045636
  • GC01P045733
  • GC01P045965
  • GC01P044077

Summaries for MMACHC Gene

Entrez Gene Summary for MMACHC Gene

  • The exact function of the protein encoded by this gene is not known, however, its C-terminal region shows similarity to TonB, a bacterial protein involved in energy transduction for cobalamin (vitamin B12) uptake. Hence, it is postulated that this protein may have a role in the binding and intracellular trafficking of cobalamin. Mutations in this gene are associated with methylmalonic aciduria and homocystinuria type cblC. [provided by RefSeq, Oct 2009]

GeneCards Summary for MMACHC Gene

MMACHC (Methylmalonic Aciduria (Cobalamin Deficiency) CblC Type, With Homocystinuria) is a Protein Coding gene. Diseases associated with MMACHC include Methylmalonic Aciduria And Homocystinuria, Cblc Type and Methylmalonic Acidemia With Homocystinuria. Among its related pathways are Metabolism and Diseases of metabolism. Gene Ontology (GO) annotations related to this gene include cobalamin binding.

UniProtKB/Swiss-Prot for MMACHC Gene

  • Catalyzes the reductive dealkylation of cyanocobalamin to cob(II)alamin, using FAD or FMN as cofactor and NADPH as cosubstrate (PubMed:19700356, PubMed:21697092, PubMed:22642810). Can also catalyze the glutathione-dependent reductive demethylation of methylcobalamin, and, with much lower efficiency, the glutathione-dependent reductive demethylation of adenosylcobalamin (PubMed:19801555, PubMed:22642810, PubMed:25809485). Under anaerobic conditions cob(I)alamin is the first product; it is highly reactive and is converted to aquocob(II)alamin in the presence of oxygen (PubMed:19801555). Binds cyanocobalamin, adenosylcobalamin, methylcobalamin and other, related vitamin B12 derivatives (PubMed:21071249).

Gene Wiki entry for MMACHC Gene

Additional gene information for MMACHC Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MMACHC Gene

Genomics for MMACHC Gene

GeneHancer (GH) Regulatory Elements for MMACHC Gene

Promoters and enhancers for MMACHC Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J045498 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 655.7 -0.1 -72 3.3 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 CCDC163 NASP MMACHC PIR33787 PRDX1 MUTYH LRRC41 TOE1 TMA16P2 LOC110117498
GH01J045334 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE 15.6 -161.8 -161780 7.9 MLX FEZF1 DMAP1 IRF4 YY1 E2F8 ZNF143 SP3 NFYC ZNF610 TOE1 MUTYH GPBP1L1 LRRC41 RPL7AP16 HECTD3 PRDX1 MMACHC NASP CCDC163
GH01J045348 Enhancer 0.8 Ensembl ENCODE 15.3 -151.0 -150973 1.9 ZNF316 MAFF MAFG CEBPB ATF7 ATF2 NR2F2 ZBTB17 PRDX1 MMACHC TESK2 PIR46302 PPIAP36
GH01J045520 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE 4.7 +21.8 21797 3.7 CLOCK MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF416 PRDX1 CCDC163 TOE1 LRRC41 MUTYH GPBP1L1 NASP RPS8 RPL7AP16 ZSWIM5
GH01J045489 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 4.8 -9.1 -9144 2.2 HDGF PKNOX1 FOXA2 ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 TESK2 CCDC163 NSUN4 PRDX1 LRRC41 TOE1 IPP GPBP1L1 KIF2C ZSWIM5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MMACHC on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MMACHC gene promoter:
  • ARP-1
  • C/EBPbeta
  • MZF-1
  • E47
  • CBF(2)
  • NF-Y
  • Msx-1
  • SRF (504 AA)
  • SRF
  • ZID

Genomic Locations for MMACHC Gene

Genomic Locations for MMACHC Gene
chr1:45,500,053-45,513,382
(GRCh38/hg38)
Size:
13,330 bases
Orientation:
Plus strand
chr1:45,965,725-45,976,739
(GRCh37/hg19)
Size:
11,015 bases
Orientation:
Plus strand

Genomic View for MMACHC Gene

Genes around MMACHC on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MMACHC Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MMACHC Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MMACHC Gene

Proteins for MMACHC Gene

  • Protein details for MMACHC Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y4U1-MMAC_HUMAN
    Recommended name:
    Methylmalonic aciduria and homocystinuria type C protein
    Protein Accession:
    Q9Y4U1
    Secondary Accessions:
    • Q5T157
    • Q9BRQ7

    Protein attributes for MMACHC Gene

    Size:
    282 amino acids
    Molecular mass:
    31728 Da
    Cofactor:
    Name=FAD; Xref=ChEBI:CHEBI:57692; Name=FMN; Xref=ChEBI:CHEBI:58210;
    Quaternary structure:
    • Monomer in the absence of bound substrate (PubMed:21697092, PubMed:22642810). Homodimer; dimerization is triggered by binding to FMN or adenosylcobalamin (PubMed:22642810). Heterodimer with MMADHC (PubMed:21071249, PubMed:23415655, PubMed:26483544).
    SequenceCaution:
    • Sequence=AAH06122.3; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MMACHC Gene

neXtProt entry for MMACHC Gene

Post-translational modifications for MMACHC Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MMACHC Gene

No data available for DME Specific Peptides for MMACHC Gene

Domains & Families for MMACHC Gene

Gene Families for MMACHC Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for MMACHC Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MMACHC Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y4U1

UniProtKB/Swiss-Prot:

MMAC_HUMAN :
  • Belongs to the MMACHC family.
Family:
  • Belongs to the MMACHC family.
genes like me logo Genes that share domains with MMACHC: view

Function for MMACHC Gene

Molecular function for MMACHC Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the reductive dealkylation of cyanocobalamin to cob(II)alamin, using FAD or FMN as cofactor and NADPH as cosubstrate (PubMed:19700356, PubMed:21697092, PubMed:22642810). Can also catalyze the glutathione-dependent reductive demethylation of methylcobalamin, and, with much lower efficiency, the glutathione-dependent reductive demethylation of adenosylcobalamin (PubMed:19801555, PubMed:22642810, PubMed:25809485). Under anaerobic conditions cob(I)alamin is the first product; it is highly reactive and is converted to aquocob(II)alamin in the presence of oxygen (PubMed:19801555). Binds cyanocobalamin, adenosylcobalamin, methylcobalamin and other, related vitamin B12 derivatives (PubMed:21071249).
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=27.7 uM for glutathione {ECO:0000269 PubMed:19801555};

Enzyme Numbers (IUBMB) for MMACHC Gene

Phenotypes From GWAS Catalog for MMACHC Gene

Gene Ontology (GO) - Molecular Function for MMACHC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 23415655
GO:0016491 oxidoreductase activity TAS --
GO:0031419 cobalamin binding IEA --
GO:0032451 demethylase activity IDA 19801555
GO:0033787 cyanocobalamin reductase (cyanide-eliminating) activity TAS --
genes like me logo Genes that share ontologies with MMACHC: view
genes like me logo Genes that share phenotypes with MMACHC: view

Human Phenotype Ontology for MMACHC Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MMACHC Gene

MGI Knock Outs for MMACHC:
  • Mmachc Mmachc<tm1.1(NCOM)Mfgc>

Animal Model Products

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for MMACHC Gene

Localization for MMACHC Gene

Subcellular locations from UniProtKB/Swiss-Prot for MMACHC Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MMACHC gene
Compartment Confidence
cytosol 5
mitochondrion 3
nucleus 3
plasma membrane 2
golgi apparatus 2
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Cytosol (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MMACHC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IDA 23270877
GO:0005739 mitochondrion IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with MMACHC: view

Pathways & Interactions for MMACHC Gene

genes like me logo Genes that share pathways with MMACHC: view

UniProtKB/Swiss-Prot Q9Y4U1-MMAC_HUMAN

  • Pathway: Cofactor biosynthesis; adenosylcobalamin biosynthesis.

Gene Ontology (GO) - Biological Process for MMACHC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006749 glutathione metabolic process IDA 19801555
GO:0009235 cobalamin metabolic process IMP,TAS --
GO:0009236 cobalamin biosynthetic process IEA --
GO:0055114 oxidation-reduction process IDA,IEA 19801555
GO:0070988 demethylation IDA 19801555
genes like me logo Genes that share ontologies with MMACHC: view

No data available for SIGNOR curated interactions for MMACHC Gene

Drugs & Compounds for MMACHC Gene

(5) Drugs for MMACHC Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Hydroxocobalamin Approved Pharma Target, other/unknown 337
Cyanocobalamin Approved Nutra Target, cofactor 337
Cobalamin Nutra 337
Cobalt Pharma 174
genes like me logo Genes that share compounds with MMACHC: view

Transcripts for MMACHC Gene

mRNA/cDNA for MMACHC Gene

(3) REFSEQ mRNAs :
(1) Additional mRNA sequences :
(94) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for MMACHC Gene

Methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MMACHC Gene

No ASD Table

Relevant External Links for MMACHC Gene

GeneLoc Exon Structure for
MMACHC
ECgene alternative splicing isoforms for
MMACHC

Expression for MMACHC Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MMACHC Gene

mRNA differential expression in normal tissues according to GTEx for MMACHC Gene

This gene is overexpressed in Liver (x4.8).

Protein differential expression in normal tissues from HIPED for MMACHC Gene

This gene is overexpressed in Gallbladder (40.8) and Testis (28.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MMACHC Gene



Protein tissue co-expression partners for MMACHC Gene

NURSA nuclear receptor signaling pathways regulating expression of MMACHC Gene:

MMACHC

SOURCE GeneReport for Unigene cluster for MMACHC Gene:

Hs.13024

mRNA Expression by UniProt/SwissProt for MMACHC Gene:

Q9Y4U1-MMAC_HUMAN
Tissue specificity: Widely expressed. Expressed at higher level in fetal liver. Also expressed in spleen, lymph node, thymus and bone marrow. Weakly or not expressed in peripheral blood leukocytes.

Evidence on tissue expression from TISSUES for MMACHC Gene

  • Nervous system(4.4)
  • Liver(4.3)
  • Lung(4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MMACHC Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • meninges
  • mouth
  • neck
  • nose
  • outer ear
  • skull
Thorax:
  • chest wall
  • clavicle
  • heart
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • kidney
  • pancreas
Pelvis:
  • pelvis
  • ureter
  • urinary bladder
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with MMACHC: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for MMACHC Gene

Orthologs for MMACHC Gene

This gene was present in the common ancestor of animals.

Orthologs for MMACHC Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MMACHC 34 33
  • 99.41 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MMACHC 34 33
  • 88.45 (n)
OneToOne
dog
(Canis familiaris)
Mammalia -- 34
  • 88 (a)
OneToMany
MMACHC 33
  • 86.36 (n)
-- 34
  • 85 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Mmachc 33
  • 83.69 (n)
mouse
(Mus musculus)
Mammalia Mmachc 16 34 33
  • 82.56 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 72 (a)
OneToMany
-- 34
  • 72 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia MMACHC 34
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves MMACHC 34 33
  • 63.55 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MMACHC 34
  • 56 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mmachc 33
  • 58.85 (n)
Str.14656 33
zebrafish
(Danio rerio)
Actinopterygii mmachc 34 33
  • 58.87 (n)
OneToOne
wufc29d04 33
worm
(Caenorhabditis elegans)
Secernentea cblc-1 34 33
  • 48.67 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 44 (a)
OneToOne
Species where no ortholog for MMACHC was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MMACHC Gene

ENSEMBL:
Gene Tree for MMACHC (if available)
TreeFam:
Gene Tree for MMACHC (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MMACHC: view image

Paralogs for MMACHC Gene

Pseudogenes.org Pseudogenes for MMACHC Gene

genes like me logo Genes that share paralogs with MMACHC: view

No data available for Paralogs for MMACHC Gene

Variants for MMACHC Gene

Sequence variations from dbSNP and Humsavar for MMACHC Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1002571805 aciduria and homocystinuria type cblC (MMAHCC) [MIM:277400] 45,508,837(+) G/C coding_sequence_variant, missense_variant
rs1044717 benign, Disorders of Intracellular Cobalamin Metabolism 45,510,915(+) A/G 3_prime_UTR_variant
rs11580609 benign, Disorders of Intracellular Cobalamin Metabolism 45,510,184(+) C/A/G 3_prime_UTR_variant
rs12021717 likely-benign, Disorders of Intracellular Cobalamin Metabolism 45,509,628(+) G/A/T 3_prime_UTR_variant
rs121918240 pathogenic, Methylmalonic acidemia with homocystinuria, Methylmalonic aciduria and homocystinuria type cblC (MMAHCC) [MIM:277400] 45,508,282(+) T/C coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for MMACHC Gene

Variant ID Type Subtype PubMed ID
esv3893512 CNV gain 25118596
nsv829726 CNV loss 17160897

Variation tolerance for MMACHC Gene

Residual Variation Intolerance Score: 94.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.57; 65.07% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MMACHC Gene

Human Gene Mutation Database (HGMD)
MMACHC
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MMACHC

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MMACHC Gene

Disorders for MMACHC Gene

MalaCards: The human disease database

(10) MalaCards diseases for MMACHC Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
methylmalonic aciduria and homocystinuria, cblc type
  • mahcc
methylmalonic acidemia with homocystinuria
  • vitamin b12 metabolic defect with combined deficiency of methylmalonyl-coa mutase and homocysteine:methyltetrahydrofolate methyltransferase
disorders of intracellular cobalamin metabolism
macular dystrophy, concentric annular
  • mcdca
homocystinuria
  • cbs deficiency
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

MMAC_HUMAN
  • Methylmalonic aciduria and homocystinuria type cblC (MMAHCC) [MIM:277400]: A disorder of cobalamin metabolism characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). Affected individuals may have developmental, hematologic, neurologic, metabolic, ophthalmologic, and dermatologic clinical findings. Although considered a disease of infancy or childhood, some individuals develop symptoms in adulthood. {ECO:0000269 PubMed:16311595, ECO:0000269 PubMed:19700356, ECO:0000269 PubMed:20219402, ECO:0000269 PubMed:22642810, ECO:0000269 PubMed:25809485}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for MMACHC

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with MMACHC: view

No data available for Genatlas for MMACHC Gene

Publications for MMACHC Gene

  1. Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type. (PMID: 16311595) Lerner-Ellis JP … Rosenblatt DS (Nature genetics 2006) 2 3 4 22 25 58
  2. Mechanism of vitamin B12-responsiveness in cblC methylmalonic aciduria with homocystinuria. (PMID: 19700356) Froese DS … Gravel RA (Molecular genetics and metabolism 2009) 2 3 4 22 58
  3. A human vitamin B12 trafficking protein uses glutathione transferase activity for processing alkylcobalamins. (PMID: 19801555) Kim J … Banerjee R (The Journal of biological chemistry 2009) 2 3 4 58
  4. Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations. (PMID: 19370762) Lerner-Ellis JP … Fowler B (Human mutation 2009) 3 22 44 58
  5. Late-onset cobalamin-C disorder: a challenging diagnosis. (PMID: 17431913) Ben-Omran TI … Feigenbaum A (American journal of medical genetics. Part A 2007) 3 22 25 58

Products for MMACHC Gene

Sources for MMACHC Gene

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