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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]
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.
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 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 23415655 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA,IDA | 23270877 |
GO:0005739 | mitochondrion | IBA,IDA | 23270877 |
GO:0005829 | cytosol | TAS | -- |
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
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0009235 | cobalamin metabolic process | IEA,TAS | -- |
ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | · | 5c | ^ | 6 | ^ | 7a | · | 7b | ^ | 8 | ^ | 9a | · | 9b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||||||||||||||||
SP2: | |||||||||||||||||||||||||||||||||
SP3: | - | - | |||||||||||||||||||||||||||||||
SP4: | - | - | |||||||||||||||||||||||||||||||
SP5: | - | ||||||||||||||||||||||||||||||||
SP6: | - | - |
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 |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
methylmalonic aciduria and homocystinuria, cbld type |
|
|
methylmalonic acidemia without homocystinuria |
|
|
homocystinuria |
|
|
methylmalonic acidemia |
|
|
disorders of intracellular cobalamin metabolism |
|
|