Selected-GenAtlas references | SOURCE | GeneCards | NCBI Gene | Swiss-Prot | Orphanet | Ensembl |
HGNC | UniGene | Nucleotide | OMIM | UCSC |
Home Page |
FLASH GENE |
Symbol | MMACHC | contributors: mct/npt/pgu - updated : 16-10-2013 |
HGNC name | methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria |
HGNC id | 24525 |
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Corresponding disease |
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Location | 1p34.1 Physical location : 45.965.855 - 45.976.737 | ||
Synonym symbol(s) | RP11-291L19.3, DKFZP564I122, cblC, FLJ25671 |
DNA |
TYPE | functioning gene |
SPECIAL FEATURE | opposite orientation |
STRUCTURE | 10.88 kb 4 Exon(s) |
MAPPING | cloned | Y | linked | N | status | provisional |
RNA |
TRANSCRIPTS | type | messenger |
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EXPRESSION |
Type | restricted |
expressed in | (based on citations) | ||||||||||||||||||||||||||||||
organ(s) |
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tissue |
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cell lineage
cell lines
| fluid/secretion
| |
at STAGE |
physiological period | fetal |
Text | liver |
PROTEIN |
PHYSICAL PROPERTIES
STRUCTURE
| |
motifs/domains
|
HOMOLOGY |
Homologene |
FAMILY |
CATEGORY | enzyme |
SUBCELLULAR LOCALIZATION | intracellular |
intracellular,cytoplasm,organelle,mitochondria | |
intracellular,cytoplasm,cytosolic |
CELLULAR PROCESS |
PHYSIOLOGICAL PROCESS |
PATHWAY |
metabolism |
signaling |
a component |
INTERACTION |
DNA |
RNA |
small molecule |
cell & other |
REGULATION |
ASSOCIATED DISORDERS |
corresponding disease(s) | MMACHC |
Susceptibility |
Variant & Polymorphism
| |
Candidate gene
Marker
| Therapy target
|
| |
ANIMAL & CELL MODELS |