Selected-GenAtlas references | SOURCE | GeneCards | NCBI Gene | Swiss-Prot | Orphanet | Ensembl |
HGNC | UniGene | Nucleotide | OMIM | UCSC |
Home Page |
FLASH GENE |
Symbol | MMAB | contributors: - updated : 24-02-2006 |
HGNC name | methylmalonic aciduria (cobalamin deficiency) cblB type |
HGNC id | 19331 |
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Corresponding disease |
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Location | 12q24 Physical location : 109.991.522 - 110.011.358 | ||
Synonym name | |||
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Synonym symbol(s) | ATR, MGC20496 | ||
EC.number | 2.5.1.17 |
DNA |
TYPE | functioning gene |
STRUCTURE | 18.00 kb 9 Exon(s) |
10 Kb 5' upstream gene genomic sequence study |
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MAPPING | cloned | Y | linked | N | status | provisional |
RNA |
TRANSCRIPTS | type | messenger |
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EXPRESSION |
Type |
constitutive of |
expressed in | (based on citations) | ||||||||||||||||||||||||||||||||||||||||
organ(s) |
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tissue |
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cell lineage
cell lines
| fluid/secretion
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at STAGE |
PROTEIN |
PHYSICAL PROPERTIES
STRUCTURE
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motifs/domains
| |
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HOMOLOGY |
interspecies | homolog to chimpanzee LOC452403 |
ortholog to murine Mmab |
Homologene |
FAMILY | Cob(I)alamin adenosyltransferase family |
CATEGORY | enzyme |
SUBCELLULAR LOCALIZATION | intracellular |
intracellular,cytoplasm,organelle,mitochondria |
basic FUNCTION |
CELLULAR PROCESS |
PHYSIOLOGICAL PROCESS |
PATHWAY |
metabolism |
signaling |
cobalamin utilization pathway |
a component |
INTERACTION |
DNA |
RNA |
small molecule |
protein |
cell & other |
REGULATION |
ASSOCIATED DISORDERS |
corresponding disease(s) | MMAB |
Susceptibility |
Variant & Polymorphism
| |
Candidate gene
Marker
| Therapy target
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ANIMAL & CELL MODELS |