Selected-GenAtlas references | SOURCE | GeneCards | NCBI Gene | Swiss-Prot | Orphanet | Ensembl |
HGNC | UniGene | Nucleotide | OMIM | UCSC |
Home Page |
FLASH GENE |
Symbol | MMADHC | contributors: mct - updated : 16-10-2013 |
HGNC name | methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria |
HGNC id | 25221 |
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Corresponding disease |
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Location | 2q23.2 Physical location : 150.426.149 - 150.444.330 | ||
Synonym name | |||
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Synonym symbol(s) | CL25022, HSPC161, My011, C2orf25, cblD |
DNA |
TYPE | functioning gene |
STRUCTURE | 18.18 kb 8 Exon(s) |
MAPPING | cloned | Y | linked | N | status | provisional |
RNA |
TRANSCRIPTS | type | messenger |
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EXPRESSION |
Type | ubiquitous |
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 |
Homologene |
FAMILY |
CATEGORY | enzyme |
SUBCELLULAR LOCALIZATION | intracellular |
intracellular,cytoplasm,organelle,mitochondria | |
intracellular,cytoplasm,cytosolic |
basic FUNCTION |
CELLULAR PROCESS |
PHYSIOLOGICAL PROCESS |
PATHWAY |
metabolism |
signaling |
a component |
INTERACTION |
DNA |
RNA |
small molecule |
protein |
cell & other |
REGULATION |
PHYSICAL PROPERTIES
STRUCTURE
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motifs/domains
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HOMOLOGY |
Homologene |
FAMILY |
CATEGORY | enzyme |
SUBCELLULAR LOCALIZATION | intracellular |
intracellular,cytoplasm,organelle,mitochondria | |
intracellular,cytoplasm,cytosolic |
basic FUNCTION |
CELLULAR PROCESS |
PHYSIOLOGICAL PROCESS |
PATHWAY |
metabolism |
signaling |
a component |
INTERACTION |
DNA |
RNA |
small molecule |
protein |
cell & other |
REGULATION |
ASSOCIATED DISORDERS |
corresponding disease(s) | MMAD |
Susceptibility |
Variant & Polymorphism
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Candidate gene
Marker
| Therapy target
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ANIMAL & CELL MODELS |