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) cblD type, with homocystinuria
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSDARG00000005870 mmadhc 7955 + 9:24082845-24089585 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENSDART00000012478 mmadhc-001 24082845-24089585 protein_coding
  ENSDART00000125370 mmadhc-201 24082865-24089584 protein_coding

Expression Patterns

Heat Map
Numeric Values
Transcript'; BrainHeartKidneyLiverMuscleENSDART00000012478ENSDART00000125370
Transcript ID Brain Heart Kidney Liver Muscle
ENSDART00000012478 6.676±0.00 6.077±0.00 7.959±0.00 N/A N/A
ENSDART00000125370 8.439±3.89 32.418±2.87 6.117±1.60 4.009±0.00 10.908±0.00

Conserved Regions

Gene is not located within a conserved region.

Gene Ontology
GO IDEvidence TypeGO Description
GO:0003674 ND molecular_function
GO:0005739 IEA mitochondrion
GO:0009235 IEA cobalamin metabolic process

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSG00000168288 MMADHC methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria protein_coding Homo_sapiens
ENSMUSG00000026766 Mmadhc methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria protein_coding Mus_musculus

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