Free for academic non-profit institutions. Other users need a Commercial license
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 adenosyl... See more...
Aliases for MMADHC Gene
Aliases for MMADHC Gene
External Ids for MMADHC Gene
- HGNC: 25221
- NCBI Entrez Gene: 27249
- Ensembl: ENSG00000168288
- OMIM®: 611935
- UniProtKB/Swiss-Prot: 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 (Metabolism Of Cobalamin Associated D) is a Protein Coding gene. Diseases associated with MMADHC include Methylmalonic Aciduria And Homocystinuria, Cbld Type and Methylmalonic Acidemia Without Homocystinuria. Among its related pathways are HIV Life Cycle and Diseases of metabolism.
UniProtKB/Swiss-Prot Summary for MMADHC Gene
-
Involved in cobalamin metabolism and trafficking (PubMed:18385497, PubMed:23415655, PubMed:24722857, PubMed:26364851). Plays a role in regulating the biosynthesis and the proportion of two coenzymes, methylcob(III)alamin (MeCbl) and 5'-deoxyadenosylcobalamin (AdoCbl) (PubMed:18385497,PubMed:23415655, PubMed:24722857). Promotes oxidation of cob(II)alamin bound to MMACHC (PubMed:26364851). The processing of cobalamin in the cytosol occurs in a multiprotein complex composed of at least MMACHC, MMADHC, MTRR (methionine synthase reductase) and MTR (methionine synthase) which may contribute to shuttle safely and efficiently cobalamin towards MTR in order to produce methionine (PubMed:27771510).
Additional gene information for MMADHC Gene
- HGNC (25221)
- NCBI Entrez Gene (27249)
- Ensembl (ENSG00000168288)
- OMIM® (611935)
- UniProtKB/Swiss-Prot (Q9H3L0)
- Open Targets Platform(ENSG00000168288)
- Monarch Initiative
- Search for MMADHC at DataMed
- Search for MMADHC at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MMADHC Gene
Genomics for MMADHC Gene
GeneHancer (GH) Regulatory Elements Pubs
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 CraniofacialAtlas | 250.7 | +1.0 | 978 | 3.6 | CHD2 TBP MXD4 CEBPA NR2C1 SMAD5 ETS1 MBD2 ZNF217 POLR2A | MMADHC MMADHC-DT lnc-RND3-7 HSALNG0019536 LYPD6 | |
| GH02J149566 | Enhancer | 0.3 | Ensembl | 11.4 | +20.9 | 20877 | 0.2 | POLR2A | MMADHC HSALNG0019536 MMADHC-DT LYPD6 | |
| GH02J149617 | Enhancer | 0.3 | Ensembl | 11 | -29.6 | -29623 | 1.2 | JUND | MMADHC RF00026-585 RNU6-601P piR-39341-202 MMADHC-DT RND3 | |
| GH02J149536 | Enhancer | 0.5 | Ensembl | 4.9 | +50.8 | 50778 | 0.8 | PRDM6 ZNF398 SP7 ZNF629 OSR2 ZBTB17 MZF1 | HSALNG0019534 MMADHC HSALNG0019535 LYPD6 | |
| GH02J149563 | Enhancer | 0.2 | Ensembl | 11.6 | +24.0 | 23977 | 0.8 | HSALNG0019536 MMADHC MMADHC-DT LYPD6 HSALNG0019534 |
- 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 the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MMADHC
- Top Transcription factor binding sites by QIAGEN in the MMADHC gene promoter:
-
- AML1a
- IRF-2
- MyoD
- Pax-2
- Pax-2a
- Pax-2b
- STAT5A
Genomic Locations for MMADHC Gene
Latest Assembly
- chr2:149,569,637-149,587,778
- (GRCh38/hg38)
- Size:
- 18,142 bases
- Orientation:
- Minus strand
Previous Assembly
- chr2:150,426,151-150,444,289
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 18,139 bases
- Orientation:
- Minus strand
- chr2:150,426,148-150,444,330
- (GRCh37/hg19 by Ensembl)
- Size:
- 18,183 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 HGNC
- 2q23.2 by Entrez Gene
- 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:
- Cobalamin trafficking protein CblD
- Protein Accession:
- Q9H3L0
- B2R895
- D3DP91
- O95891
Protein attributes for MMADHC Gene
- Size:
- 296 amino acids
- Molecular mass:
- 32940 Da
- Quaternary structure:
-
- Heterodimer with MMACHC. Forms a multiprotein complex with MMACHC, MTR and MTRR (PubMed:27771510).
- SequenceCaution:
-
- Sequence=AAG43124.1; Type=Frameshift; Evidence={ECO:0000305};
Protein Expression for MMADHC Gene
Post-translational modifications for MMADHC Gene
Other Protein References for MMADHC Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- Novus Biologicals Antibodies for MMADHC
-
Abcam antibodies for MMADHC
- Invitrogen Antibodies for MMADHC (AFLGC-MMADHC)
-
Biorbyt antibodies for MMADHC
-
Custom Antibody ServicesProSci Antibodies for MMADHC
Protein products for research
- Search Origene for MassSpec and Protein Over-expression Lysates for MMADHC
- Origene Custom Protein Services for MMADHC
- ProSpec Recombinant Proteins for MMADHC
- antibodies-online: Show 7 available MMADHC Proteins ranked by validation data
- Compare Top MMADHC Proteins
-
Quality Products:
-
Abcam proteins for MMADHC
Assay products for research
- antibodies-online: Show 6 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:
-
- Methylmalonic aciduria and homocystinuria type D protein, mitochondrial (MMAD_HUMAN)
No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for MMADHC Gene
Function for MMADHC Gene
Molecular function for MMADHC Gene
- UniProtKB/Swiss-Prot Function:
- Involved in cobalamin metabolism and trafficking (PubMed:18385497, PubMed:23415655, PubMed:24722857, PubMed:26364851). Plays a role in regulating the biosynthesis and the proportion of two coenzymes, methylcob(III)alamin (MeCbl) and 5'-deoxyadenosylcobalamin (AdoCbl) (PubMed:18385497,PubMed:23415655, PubMed:24722857). Promotes oxidation of cob(II)alamin bound to MMACHC (PubMed:26364851). The processing of cobalamin in the cytosol occurs in a multiprotein complex composed of at least MMACHC, MMADHC, MTRR (methionine synthase reductase) and MTR (methionine synthase) which may contribute to shuttle safely and efficiently cobalamin towards MTR in order to produce methionine (PubMed:27771510).
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:
-
- Decreased hepcidin::fluc mRNA expression
- no effect
- Decreased vaccinia virus (VACV) infection
- Decreased viability
- Mildly decreased CFP-tsO45G cell surface transport
- Decreased p24 protein expression
- Negative genetic interaction between KRASG13D/+ and KRAS+/-
- Two nuclei (binuclear)
- Decreased Tat-dependent transcription
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for MMADHC - Starting at $85 >
- * MMADHC CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for MMADHC
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MMADHC
-
Santa Cruz Biotechnology (SCBT) CRISPR 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 for research
Inhibitory RNAs for research
- 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
Clone products for research
- Applied Biological Materials (abm): Clones for MMADHC - Starting at $45 >
- * MMADHC as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for MMADHC
- Addgene plasmids for MMADHC
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MMADHC
Cell Lines for research
-
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 | 4 |
| lysosome | 2 |
| plasma membrane | 1 |
| extracellular | 1 |
| nucleus | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA,IDA | 23270877 |
| GO:0005739 | mitochondrion | IBA,IDA | 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 |
.40
|
|
Pathways by source for MMADHC Gene
Interacting Proteins for MMADHC Gene
Selected Interacting proteins:
Q9H3L0-MMAD_HUMAN
ENSP00000389060
for MMADHC Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for MMADHC
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| 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 :
- 13 NCBI additional mRNA sequence :
- 4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000303319 1392 nts (view in UCSC)
- ENST00000422782 1462 nts (view in UCSC)
- ENST00000428879 1726 nts (view in UCSC)
- ENST00000460311 324 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for MMADHC - Starting at $85 >
- * MMADHC CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for MMADHC
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MMADHC
-
Santa Cruz Biotechnology (SCBT) CRISPR for MMADHC
miRNA products for research
Inhibitory RNAs for research
- 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
Clone products for research
- Applied Biological Materials (abm): Clones for MMADHC - Starting at $45 >
- * MMADHC as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for MMADHC
- Addgene plasmids for MMADHC
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MMADHC
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | · | 5c | ^ | 6 | ^ | 7a | · | 7b | ^ | 8 | ^ | 9a | · | 9b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | ||||||||||||||||||||||||||||||
| SP2: | |||||||||||||||||||||||||||||||||
| SP3: | - | - | |||||||||||||||||||||||||||||||
| SP4: | - | - | |||||||||||||||||||||||||||||||
| SP5: | - | ||||||||||||||||||||||||||||||||
| SP6: | - | - |
Relevant External Links for MMADHC Gene
- GeneLoc Exon Structure for
- MMADHC
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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MMADHC
SOURCE 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(4.8)
- Muscle(4.7)
- Skin(4.6)
- Blood(4.5)
- Intestine(3.1)
- Liver(2.9)
- Heart(2.4)
- Stomach(2.1)
- 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 for research
-
OriGene qPCR primer pairs for MMADHC
-
OriGene qPCR primer pairs and template standards for MMADHC
Gene Expression Assays for research
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 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | MMADHC 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | -- 31 |
|
OneToMany | |
| MMADHC 30 |
|
||||
| -- 31 |
|
OneToMany | |||
| Mouse (Mus musculus) |
Mammalia | Mmadhc 30 17 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | MMADHC 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Mmadhc 30 |
|
||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | MMADHC 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | MMADHC 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | MMADHC 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | mmadhc 30 |
|
||
| Str.15175 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.7731 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | mmadhc 31 |
|
OneToMany | |
| zgc:92335 30 |
|
||||
| MMADHC (2 of 2) 31 |
|
OneToMany | |||
| Dr.29137 30 |
|
||||
| Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.380 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG12118 31 |
|
OneToOne | |
| Worm (Caenorhabditis elegans) |
Secernentea | Y76A2B.5 30 31 |
|
OneToOne | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.6866 31 |
|
OneToOne |
- Species where no ortholog for MMADHC was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
- 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
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MMADHC Gene
| SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 203838 | Uncertain Significance: Methylmalonic aciduria with homocystinuria cblD type; Methylmalonic acidemia with homocystinuria cblD; Disorders of Intracellular Cobalamin Metabolism | 149,582,208(-) |
C/A NM_015702.3(MMADHC):c.73G>T (p.Val25Phe) |
MISSENSE | |
| 837579 | Pathogenic: Methylmalonic acidemia with homocystinuria cblD | 149,575,775(-) |
G/GT NM_015702.3(MMADHC):c.544dup (p.Thr182fs) |
FRAMESHIFT | |
| 839892 | Uncertain Significance: Methylmalonic acidemia with homocystinuria cblD | 149,570,128(-) |
T/C NM_015702.3(MMADHC):c.737A>G (p.Asp246Gly) |
MISSENSE | |
| 848430 | Pathogenic: Methylmalonic acidemia with homocystinuria cblD | 149,575,762(-) |
CAT/C NM_015702.3(MMADHC):c.554_555AT[1] (p.Met186fs) |
FRAMESHIFT | |
| 856679 | Uncertain Significance: Methylmalonic acidemia with homocystinuria cblD | 149,579,492(-) |
G/A NM_015702.3(MMADHC):c.311C>T (p.Ala104Val) |
MISSENSE |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
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 Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MMADHC Gene
Disorders for MMADHC Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| methylmalonic aciduria and homocystinuria, cbld type |
|
|
| methylmalonic acidemia without homocystinuria |
|
|
| homocystinuria |
|
|
| methylmalonic acidemia |
|
|
| disorders of intracellular cobalamin metabolism |
|
|
Search MMADHC in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
MMAD_HUMAN- Methylmalonic aciduria and homocystinuria, cblD type (MAHCD) [MIM:277410]: An autosomal recessive 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 variants affecting the gene represented in this entry.
Additional Disease Information for MMADHC
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
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 74
- Methionine synthase and methionine synthase reductase interact with MMACHC and with MMADHC. (PMID: 27771510) Bassila C … Coelho D (Biochimica et biophysica acta. Molecular basis of disease 2017) 3 4
- 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
- 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
- Characterization of functional domains of the cblD (MMADHC) gene product. (PMID: 24722857) Jusufi J … Baumgartner MR (Journal of inherited metabolic disease 2014) 3 4
ExternalLinks
Products for MMADHC Gene
- Custom Antibody Services
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for MassSpec and Protein Over-expression Lysates for MMADHC
- Origene Custom Protein Services for MMADHC
- Origene shrna, sirna, and RNAi products in human, mouse, rat for MMADHC
- Browse OriGene Inhibitory RNA Products For MMADHC
- OriGene qPCR primer pairs for MMADHC
- OriGene qPCR primer pairs and template standards for MMADHC
- OriGene CRISPR knockouts for MMADHC
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For MMADHC
- Sino Biological Human cDNA Clone for MMADHC
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for MMADHC
- Novus Biologicals proteins and lysates for MMADHC
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for MMADHC
- Abcam proteins for MMADHC
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- VectorBuilder Custom and pre-made DNA vectors for MMADHC (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for MMADHC (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for MMADHC (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for MMADHC CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for MMADHC
- Addgene plasmids for MMADHC
- antibodies-online: Show 15 available MMADHC Antibodies ranked by validation data
- Compare Top MMADHC Antibodies
- antibodies-online: Show 6 available MMADHC Elisa Kits ranked by validation data
- Compare Top MMADHC Elisa Kits
- Quality Products:
- antibodies-online: Show 7 available MMADHC Proteins ranked by validation data
- Compare Top MMADHC Proteins
- Quality Products:
- Custom Antibody ServicesProSci Antibodies for MMADHC
- Search for MMADHC Proteins at ProSci
- Horizon Cell Lines for MMADHC
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MMADHC
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MMADHC
- Search GeneCopoeia for miRNA 3'UTR Target clone products for MMADHC
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MMADHC
- Biorbyt antibodies for MMADHC
Sources for MMADHC Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Mar-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) MedlinePlus Genetics
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNAcentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Open Targets Platform
- (175) 5SRRNADB
- (176) snoDB
- (177) MirGeneDB