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
ENSDARG00000041602 MMADHC (2 of 2) 7955 + 22:12734437-12743899 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENSDART00000060979 MMADHC (2 of 2)-201 12734480-12743898 protein_coding
  ENSDART00000139826 MMADHC (2 of 2)-002 12734512-12741347 protein_coding
  ENSDART00000140054 MMADHC (2 of 2)-001 12734437-12743899 protein_coding
  ENSDART00000140814 MMADHC (2 of 2)-003 12735976-12742362 retained_intron

Expression Patterns

Heat Map
Numeric Values
Transcript'; BrainHeartKidneyLiverMuscleENSDART00000060979ENSDART00000140054
Transcript ID Brain Heart Kidney Liver Muscle
ENSDART00000060979 13.335±1.58 15.312±5.53 4.889±2.51 4.911±0.00 20.653±0.00
ENSDART00000140054 N/A N/A 1.813±0.00 N/A N/A

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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