C-It-Loci: A knowledge database for tissue-enriched loci.

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: methylmalonic aciduria cblC type, with homocystinuria
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSMUSG00000028690 Mmachc 10090 - 4:116702279-116708406 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENSMUST00000030453 Mmachc-001 116702279-116708406 protein_coding
  ENSMUST00000143330 Mmachc-002 116704389-116708288 processed_transcript

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENSMUST00000030453ENSMUST00000143330
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENSMUST00000030453 12.030±2.89 11.154±1.07 5.563±0.28 4.851±2.67 8.521±1.33 4.999±0.85 22.345±2.66 12.490±1.61 8.984±2.65 3.330±0.67 8.840±0.93 4.046±1.30 3.935±2.52 11.593±5.35
ENSMUST00000143330 N/A N/A N/A N/A 8.440±0.00 N/A N/A N/A N/A N/A N/A N/A N/A 4.342±0.00

Conserved Regions

Gene is not located within a conserved region.

Gene Ontology
GO IDEvidence TypeGO Description
GO:0003674 ND molecular_function
GO:0005515 IEA protein binding
GO:0005739 IDA mitochondrion
GO:0008150 ND biological_process
GO:0009236 IEA cobalamin biosynthetic process
GO:0031419 IEA cobalamin binding

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000043877 mmachc methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria protein_coding Danio_rerio
ENSG00000132763 MMACHC methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria protein_coding Homo_sapiens

Loading