methylmalonyl-CoA mutase

Summary
Gene Symbol
  • MMUT
Aliases
  • MCM
Organism
Homo sapiens (human)
External Links
NCBI Gene
4594
HGNC
7526
KEGG Gene ID
hsa:4594
PubChem
4594
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Acetylation
  • Cobalamin
  • Cytoplasm
  • Direct protein sequencing
  • Disease variant
  • Isomerase
  • Metal-binding
  • Mitochondrion
  • Phosphoprotein
  • Reference proteome
  • Transit peptide
Proteins
Displaying all 3 entries
UniProt Protein Name
P22033
  • Methylmalonyl-CoA isomerase
B2R6K1
  • Methylmalonyl-CoA isomerase
A0A024RD82
  • Methylmalonyl-CoA isomerase
Gene Ontology (GO)
GO Hierarchy
Human Protein Atlas
ENSG00000146085

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

KEGG BRITE Database
Orthology
K01847
Name
methylmalonyl-CoA mutase [EC:5.4.99.2]
References
Disease
Disease Ontology
Displaying entries 1 - 10 of 212 in total
DO ID Disease Name Source
DOID:768 retinoblastoma
DOID:0014667 disease of metabolism
DOID:0040085 bacterial sepsis
DOID:0050387 nonpapillary renal cell carcinoma
DOID:0050590 severe congenital neutropenia
DOID:0050700 cardiomyopathy
DOID:0050818 transcobalamin II deficiency
DOID:0050819 obsolete Matthew-Wood syndrome
DOID:0050841 focal hand dystonia
DOID:0050902 medulloblastoma
The Human Phenotype Ontology
Displaying entries 1 - 10 of 53 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000083 Renal insufficiency
HP:0000124 Renal tubular dysfunction
HP:0000648 Optic atrophy
HP:0001249 Intellectual disability
HP:0001250 Seizure
HP:0001252 Hypotonia
HP:0001254 Lethargy
HP:0001259 Coma
HP:0001260 Dysarthria
Displaying all 3 entries
Disease ID Disease Name
ORPHA:79312
  • vitamin B12-unresponsive methylmalonic acidemia type mut-
ORPHA:289916
  • vitamin B12-unresponsive methylmalonic acidemia type mut0
OMIM:251000
  • methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP005084
Gene Name
methylmalonyl CoA mutase

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024