| Transcript ID | Kidney | Testis |
|---|---|---|
| ENST00000401061 | 4.026±0.00 | 3.798±0.00 |
| ENST00000477188 | N/A | 16.333±0.00 |
C-It-Loci: A knowledge database for tissue-enriched loci.
Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main
Gene Info | |||||
|---|---|---|---|---|---|
| Description: | methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria | ||||
| Gene Accession | Gene Name | Tax ID | Strand | Position | Gene Biotype |
ENSG00000132763  |
MMACHC | 9606 | + |
1:45500053-45513382  |
protein_coding |
| Transcript Accession | Transcript Name | Position | Transcript Biotype | ||
| ENST00000401061 |
MMACHC-001 | 45500053-45513382 | protein_coding | ||
| ENST00000477188 |
MMACHC-004 | 45509433-45510505 | processed_transcript | ||
| ENST00000616135 |
MMACHC-201 | 45500341-45511065 | protein_coding | ||
Expression Patterns
|
Conserved Regions |
|---|
| Gene is not located within a conserved region. |
Gene Ontology |
||
|---|---|---|
| GO ID | Evidence Type | GO Description |
| GO:0005515 | IPI | protein binding |
| GO:0005739 | IEA | mitochondrion |
| GO:0005829 | TAS | cytosol |
| GO:0006766 | TAS | vitamin metabolic process |
| GO:0006767 | TAS | water-soluble vitamin metabolic process |
| GO:0009235 | TAS | cobalamin metabolic process |
| GO:0009236 | IEA | cobalamin biosynthetic process |
| GO:0031419 | IEA | cobalamin binding |
| GO:0044281 | TAS | small molecule metabolic process |
Homologs | |||||
| ENSEMBL Accession | Gene Name | Description | Biotype | Species | |
|
ENSDARG00000043877
|
mmachc | methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria | protein_coding | Danio_rerio | |
|
ENSMUSG00000028690
|
Mmachc | methylmalonic aciduria cblC type, with homocystinuria | protein_coding | Mus_musculus | |
