Aliases for MMADHC Gene
Aliases for MMADHC Gene
- Methylmalonic Aciduria And Homocystinuria, CblD Type 2 3 5
- Methylmalonic Aciduria (Cobalamin Deficiency) CblD Type, With Homocystinuria 2 3
- C2orf25 3 4
- CL25022 3 4
- CblD 3 4
- Methylmalonic Aciduria And Homocystinuria Type D Protein, Mitochondrial 3
- Chromosome 2 Open Reading Frame 25 2
- Protein C2orf25, Mitochondrial 3
External Ids for MMADHC Gene
- HGNC: 25221
- Entrez Gene: 27249
- Ensembl: ENSG00000168288
- OMIM: 611935
- UniProtKB: Q9H3L0
Previous HGNC Symbols for MMADHC Gene
- C2orf25
Previous GeneCards Identifiers for MMADHC Gene
- GC02M150135
- GC02M150426
- GC02M142325
Summaries for MMADHC Gene
-
This gene encodes a mitochondrial protein that is involved in an early step of vitamin B12 metabolism. Vitamin B12 (cobalamin) is essential for normal development and survival in humans. Mutations in this gene cause methylmalonic aciduria and homocystinuria type cblD (MMADHC), a disorder of cobalamin metabolism that is characterized by decreased levels of the coenzymes adenosylcobalamin and methylcobalamin. Pseudogenes have been identified on chromosomes 11 and X.[provided by RefSeq, Nov 2008]
GeneCards Summary for MMADHC Gene
MMADHC (Methylmalonic Aciduria And Homocystinuria, CblD Type) is a Protein Coding gene. Diseases associated with MMADHC include Methylmalonic Aciduria And Homocystinuria, Cbld Type and Homocystinuria. Among its related pathways are Metabolism and Diseases of metabolism.
UniProtKB/Swiss-Prot for MMADHC Gene
-
Involved in cobalamin metabolism (PubMed:18385497, PubMed:23415655, PubMed:24722857, PubMed:26364851). Plays a role in regulating the biosynthesis of two coenzymes, methylcobalamin and adenosylcobalamin (PubMed:18385497, PubMed:24722857). Plays a role in regulating the proportion of methylcobalamin and adenosylcobalamin (PubMed:23415655, PubMed:24722857). Promotes oxidation of cob(II)alamin bound to MMACHC (PubMed:26364851).
Additional gene information for MMADHC Gene
- Monarch Initiative
- Search for MMADHC at DataMed
- Search for MMADHC at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MMADHC Gene
Genomics for MMADHC Gene
GeneHancer (GH) Regulatory Elements for MMADHC Gene
Promoters and enhancers for MMADHC 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 |
|---|---|---|---|---|---|---|---|---|---|---|
| GH02J149585 | Promoter/Enhancer | 2.1 | EPDnew Ensembl ENCODE | 650.7 | +1.0 | 999 | 3.2 | HDGF PKNOX1 FOXA2 SMAD1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 | LOC101929231 MMADHC GC02P149515 | |
| GH02J149597 | Enhancer | 1 | Ensembl ENCODE | 0.4 | -10.0 | -10042 | 1.3 | RB1 BATF IRF4 RAD21 ZNF335 ZNF213 ZNF366 ARID2 ZNF143 ATF7 | LOC101929231 RNU6-601P MMADHC | |
| GH02J149579 | Enhancer | 0.4 | ENCODE | 0.4 | +7.5 | 7466 | 1.6 | MITF HNF4A | LOC101929231 MMADHC GC02P149515 | |
| GH02J149571 | Enhancer | 0.4 | ENCODE | 0.4 | +14.9 | 14928 | 2 | CTCF ZNF654 RAD21 | LOC101929231 MMADHC GC02P149515 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)
GeneHancers around MMADHC on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the MMADHC gene promoter:
-
- Pax-2b
- Pax-2a
- Pax-2
- STAT5A
- AML1a
- IRF-2
- MyoD
Regulatory Element Products
Genomic Locations for MMADHC Gene
Genomic Locations for MMADHC Gene
- chr2:149,569,633-149,587,816
- (GRCh38/hg38)
- Size:
- 18,184 bases
- Orientation:
- Minus strand
- chr2:150,426,147-150,444,330
- (GRCh37/hg19)
- Size:
- 18,184 bases
- Orientation:
- Minus strand
Genomic View for MMADHC Gene
Genes around MMADHC on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 2q23.2 by Entrez Gene
- 2q23.2 by HGNC
- 2q23.2 by Ensembl
MMADHC Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for MMADHC Gene
Proteins for MMADHC Gene
-
Protein details for MMADHC Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9H3L0-MMAD_HUMAN
- Recommended name:
- Methylmalonic aciduria and homocystinuria type D protein, mitochondrial
- Protein Accession:
- Q9H3L0
- B2R895
- D3DP91
- O95891
Protein attributes for MMADHC Gene
- Size:
- 296 amino acids
- Molecular mass:
- 32940 Da
- Quaternary structure:
-
- Heterodimer with MMACHC.
- SequenceCaution:
-
- Sequence=AAG43124.1; Type=Frameshift; Positions=171, 178, 185, 188, 200; Evidence={ECO:0000305};
Protein Expression for MMADHC Gene
Post-translational modifications for MMADHC Gene
Other Protein References for MMADHC Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for MMADHC
-
Abcam antibodies for MMADHC
- Invitrogen Antibodies for MMADHC
- Search GeneTex for Antibodies for MMADHC
-
Boster Bio Antibodies for MMADHC
Protein Products
-
OriGene Purified Proteins for MMADHC
- Search Origene for MassSpec and Protein Over-expression Lysates for MMADHC
- Origene Custom Protein Services for MMADHC
- ProSpec Recombinant Proteins for MMADHC
- antibodies-online: Search results for 6 available MMADHC Proteins ranked by validation data
- Compare Top MMADHC Proteins
-
Quality Products:
- Search GeneTex for Proteins for MMADHC
-
Abcam proteins for MMADHC
Assay Products
- antibodies-online: Search results for 4 available MMADHC Elisa Kits ranked by validation data
- Compare Top MMADHC Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for MMADHC Gene
Domains & Families for MMADHC Gene
Gene Families for MMADHC Gene
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
Suggested Antigen Peptide Sequences for MMADHC Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
No data available for UniProtKB/Swiss-Prot for MMADHC Gene
Function for MMADHC Gene
Molecular function for MMADHC Gene
- UniProtKB/Swiss-Prot Function:
- Involved in cobalamin metabolism (PubMed:18385497, PubMed:23415655, PubMed:24722857, PubMed:26364851). Plays a role in regulating the biosynthesis of two coenzymes, methylcobalamin and adenosylcobalamin (PubMed:18385497, PubMed:24722857). Plays a role in regulating the proportion of methylcobalamin and adenosylcobalamin (PubMed:23415655, PubMed:24722857). Promotes oxidation of cob(II)alamin bound to MMACHC (PubMed:26364851).
Phenotypes From GWAS Catalog for MMADHC Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 23415655 |
Phenotypes for MMADHC Gene
- GenomeRNAi human phenotypes for MMADHC:
-
- Effect on mitosis
- Dynamic nuclei (hole, folded or small irregular)
- Negative genetic interaction between KRASG13D/+ and KRAS+/-
- Decreased p24 protein expression
- Decreased Tat-dependent transcription
- Decreased viability
- no effect
- Increased vaccinia virus (VACV) infection
- Mildly decreased CFP-tsO45G cell surface transport
- Decreased hepcidin::fluc mRNA expression
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for MMADHC
-
CRISPR Products
-
OriGene CRISPR knockouts for MMADHC
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MMADHC
- genomics-online: gRNA clones - Search results for available MMADHC gene related products
- Applied Biological Materials CRISPR for MMADHC
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for MMADHC
- GenScript: Design CRISPR guide RNA sequences for MMADHC
miRNA for MMADHC Gene
- miRTarBase miRNAs that target MMADHC
-
- hsa-mir-106b-5p (MIRT044302)
- hsa-mir-4789-3p (MIRT351436)
- hsa-mir-1277-5p (MIRT504607)
- hsa-mir-448 (MIRT504608)
- hsa-mir-190a-3p (MIRT504609)
- hsa-mir-4789-5p (MIRT504610)
- hsa-mir-5011-5p (MIRT504611)
- hsa-mir-633 (MIRT530722)
- hsa-mir-95-5p (MIRT530723)
- hsa-mir-577 (MIRT530724)
- hsa-mir-574-5p (MIRT551511)
- hsa-mir-297 (MIRT551512)
- hsa-mir-6867-5p (MIRT551513)
- hsa-mir-4711-3p (MIRT551514)
- hsa-mir-223-5p (MIRT551515)
- hsa-mir-567 (MIRT551516)
- hsa-mir-511-3p (MIRT551517)
- hsa-mir-380-3p (MIRT551518)
- hsa-mir-411-3p (MIRT551519)
- hsa-mir-379-3p (MIRT551520)
- hsa-mir-4495 (MIRT551521)
- hsa-mir-3662 (MIRT551522)
- hsa-mir-586 (MIRT620494)
- hsa-mir-8485 (MIRT620495)
- hsa-mir-1322 (MIRT695167)
- hsa-mir-1272 (MIRT695168)
- hsa-mir-4666a-5p (MIRT707491)
- hsa-mir-5580-3p (MIRT707492)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for MMADHC
- Browse OriGene Inhibitory RNA Products For MMADHC
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MMADHC
- genomics-online: shRNA clones - Search results for available MMADHC gene related products
Clone Products
- Sino Biological Human cDNA Clone for MMADHC
- VectorBuilder custom plasmid, inducible vectors for MMADHC
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for MMADHC
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for MMADHC
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MMADHC
- genomics-online: cdna clones - Search results for available MMADHC gene related products
- orf clones - Search results for available MMADHC gene related products
- Applied Biological Materials Clones for MMADHC
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for MMADHC
No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for MMADHC Gene
Localization for MMADHC Gene
Subcellular locations from UniProtKB/Swiss-Prot for MMADHC Gene
- Cytoplasm. Mitochondrion.
| Compartment | Confidence |
|---|---|
| mitochondrion | 5 |
| cytosol | 5 |
| nucleus | 1 |
| lysosome | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA,IDA | 23270877 |
| GO:0005739 | mitochondrion | IDA,IEA | 23270877 |
| GO:0005829 | cytosol | TAS | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for MMADHC Gene
Pathways & Interactions for MMADHC Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Diseases of metabolism | ||
| 2 | Metabolism of water-soluble vitamins and cofactors | ||
| 3 | Cobalamin (Cbl, vitamin B12) transport and metabolism | ||
| 4 | HIV Life Cycle |
.45
|
|
| 5 | Metabolism |
.37
|
|
Pathways by source for MMADHC Gene
Interacting Proteins for MMADHC Gene
GPS-Prot Interaction Network for MMADHC
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0009108 | coenzyme biosynthetic process | IMP | 24722857 |
| GO:0009235 | cobalamin metabolic process | IEA,TAS | -- |
No data available for SIGNOR curated interactions for MMADHC Gene
Transcripts for MMADHC Gene
mRNA/cDNA for MMADHC Gene
- (1) REFSEQ mRNAs :
- (9) Additional mRNA sequences :
- (1041) Selected AceView cDNA sequences:
- (4) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000303319 1436 bps (uc002txc.4)
- ENST00000428879 1726 bps (uc061oob.1)
- ENST00000422782 1462 bps (uc061ooc.1)
- ENST00000460311 324 bps (uc061ood.1)
Unigene Clusters for MMADHC Gene
- Methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for MMADHC
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MMADHC
- genomics-online: gRNA clones - Search results for available MMADHC gene related products
- Applied Biological Materials CRISPR for MMADHC
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for MMADHC
- GenScript: Design CRISPR guide RNA sequences for MMADHC
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for MMADHC
- Browse OriGene Inhibitory RNA Products For MMADHC
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MMADHC
- genomics-online: shRNA clones - Search results for available MMADHC gene related products
Clone Products
- Sino Biological Human cDNA Clone for MMADHC
- VectorBuilder custom plasmid, inducible vectors for MMADHC
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for MMADHC
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for MMADHC
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MMADHC
- genomics-online: cdna clones - Search results for available MMADHC gene related products
- orf clones - Search results for available MMADHC gene related products
- Applied Biological Materials Clones for MMADHC
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | · | 5c | ^ | 6 | ^ | 7a | · | 7b | ^ | 8 | ^ | 9a | · | 9b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | ||||||||||||||||||||||||||||||
| SP2: | |||||||||||||||||||||||||||||||||
| SP3: | - | - | |||||||||||||||||||||||||||||||
| SP4: | - | - | |||||||||||||||||||||||||||||||
| SP5: | - | ||||||||||||||||||||||||||||||||
| SP6: | - | - |
Expression for MMADHC Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Gut Tube (Gastrointestinal Tract)
- Intestine (Gastrointestinal Tract)
- Bone (Muscoskeletal System)
-
Uterus (Reproductive System)
-
Colon (Gastrointestinal Tract)
-
Prostate (Endocrine System)
-
Placenta (Extraembryonic Tissues)
-
Thyroid (Endocrine System)
-
Gall Bladder (Hepatobiliary System)
-
Lung (Respiratory System)
-
Kidney (Urinary System)
-
Testis (Reproductive System)
-
Adrenal Gland (Endocrine System)
-
Esophagus (Gastrointestinal Tract)
-
Stomach (Gastrointestinal Tract)
-
Liver (Hepatobiliary System)
-
Ovary (Reproductive System)
This gene is overexpressed in Bone (17.1), Tlymphocyte (16.8), Neutrophil (15.2), Pancreas (12.3), and Monocytes (7.3).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for MMADHC Gene
NURSA nuclear receptor signaling pathways regulating expression of MMADHC Gene:
MMADHCSOURCE GeneReport for Unigene cluster for MMADHC Gene:
Hs.5324mRNA Expression by UniProt/SwissProt for MMADHC Gene:
Q9H3L0-MMAD_HUMAN
Tissue specificity:
Widely expressed at high levels.
Evidence on tissue expression from TISSUES for MMADHC Gene
- Nervous system(4.9)
- Kidney(4.7)
- Muscle(4.6)
- Skin(4.5)
- Blood(4.4)
- Intestine(2.7)
- Liver(2.6)
- Lung(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for MMADHC Gene
Germ Layers:
- ectoderm
- mesoderm
Systems:
- cardiovascular
- integumentary
- nervous
- skeletal muscle
- skeleton
Regions:
Head and neck:
- brain
- eye
- head
- jaw
- mandible
- maxilla
- mouth
- neck
- skull
Thorax:
- chest wall
- clavicle
- rib
- rib cage
- scapula
- sternum
Pelvis:
- pelvis
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
- red blood cell
- skin
- spinal column
- spinal cord
- vertebrae
Primer Products
-
OriGene qPCR primer pairs and template standards for MMADHC
-
OriGene qPCR primer pairs for MMADHC
- genomics-online: primer clones - Search results for available MMADHC gene related products
Gene Expression Assay Products
No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for MMADHC Gene
Orthologs for MMADHC Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | MMADHC 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | MMADHC 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | -- 34 |
|
OneToMany | |
| MMADHC 33 |
|
||||
| -- 34 |
|
OneToMany | |||
| mouse (Mus musculus) |
Mammalia | Mmadhc 16 34 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | MMADHC 34 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Mmadhc 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | MMADHC 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | MMADHC 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | MMADHC 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | mmadhc 33 |
|
||
| Str.15175 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.7731 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | mmadhc 34 |
|
OneToMany | |
| zgc:92335 33 |
|
||||
| MMADHC (2 of 2) 34 |
|
OneToMany | |||
| Dr.29137 33 |
|
||||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.380 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | CG12118 34 |
|
OneToOne | |
| worm (Caenorhabditis elegans) |
Secernentea | Y76A2B.5 34 33 |
|
OneToOne | |
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.6866 34 |
|
OneToOne |
- Species where no ortholog for MMADHC was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- 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)
- 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)
- 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 MMADHC Gene
- ENSEMBL:
- Gene Tree for MMADHC (if available)
- TreeFam:
- Gene Tree for MMADHC (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for MMADHC: view image
Paralogs for MMADHC Gene
(20) SIMAP similar genes for MMADHC Gene using alignment to 2 proteins:
- MMAD_HUMAN
- F8WEC0_HUMAN
Pseudogenes.org Pseudogenes for MMADHC Gene
No data available for Paralogs for MMADHC Gene
Variants for MMADHC Gene
| SNP ID | Clin | Chr 02 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs114276563 | likely-benign, benign, not provided, not specified | 149,576,442(-) | C/T | coding_sequence_variant, missense_variant | |
| rs11545261 | benign, not specified, Methylmalonic acidemia, Disorders of Intracellular Cobalamin Metabolism | 149,576,462(-) | C/T | coding_sequence_variant, synonymous_variant | |
| rs118204044 | pathogenic, Homocystinuria, cblD type, variant 1, Methylmalonic aciduria and homocystinuria type cblD (MMAHCD) [MIM:277410] | 149,570,089(-) | A/G | coding_sequence_variant, missense_variant | |
| rs118204045 | pathogenic, Homocystinuria, cblD type, variant 1, Methylmalonic aciduria and homocystinuria type cblD (MMAHCD) [MIM:277410] | 149,575,775(-) | G/T | coding_sequence_variant, missense_variant | |
| rs118204046 | pathogenic, Homocystinuria, cblD type, variant 1, Methylmalonic aciduria and homocystinuria type cblD (MMAHCD) [MIM:277410] | 149,570,119(-) | T/C | coding_sequence_variant, missense_variant |
Residual Variation Intolerance Score:
68.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
3.74;
57.74% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for MMADHC Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MMADHC Gene
Disorders for MMADHC Gene
(9) MalaCards diseases for MMADHC Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| methylmalonic aciduria and homocystinuria, cbld type |
|
|
| homocystinuria |
|
|
| methylmalonic acidemia with homocystinuria |
|
|
| disorders of intracellular cobalamin metabolism |
|
|
| transcobalamin ii deficiency |
|
|
Search MMADHC in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
MMAD_HUMAN- Methylmalonic aciduria and homocystinuria type cblD (MMAHCD) [MIM:277410]: A disorder of cobalamin metabolism characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). Clinical features include developmental delay, hyotonia, mental retardation, seizures, megaloblastic anemia. Some patients manifest combined methylmalonic aciduria and homocystinuria (referred to as cblD original), some have only isolated homocystinuria (cblD variant 1), and others have only methylmalonic aciduria (cblD variant 2). {ECO:0000269 PubMed:18385497, ECO:0000269 PubMed:24722857, ECO:0000269 PubMed:26483544}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for MMADHC
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for MMADHC Gene
Publications for MMADHC Gene
- Gene identification for the cblD defect of vitamin B12 metabolism. (PMID: 18385497) Coelho D … Fowler B (The New England journal of medicine 2008) 2 3 4 58
- Structural Insights into the MMACHC-MMADHC Protein Complex Involved in Vitamin B12 Trafficking. (PMID: 26483544) Froese DS … Yue WW (The Journal of biological chemistry 2015) 3 4 58
- Structure of Human B12 Trafficking Protein CblD Reveals Molecular Mimicry and Identifies a New Subfamily of Nitro-FMN Reductases. (PMID: 26364851) Yamada K … Koutmos M (The Journal of biological chemistry 2015) 3 4 58
- Characterization of functional domains of the cblD (MMADHC) gene product. (PMID: 24722857) Jusufi J … Baumgartner MR (Journal of inherited metabolic disease 2014) 3 4 58
- Subcellular location of MMACHC and MMADHC, two human proteins central to intracellular vitamin B(12) metabolism. (PMID: 23270877) Mah W … Coulton JW (Molecular genetics and metabolism 2013) 3 4 58
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