Reactome: A Curated Pathway Database

MUT R93H

Stable Identifier
R-HSA-3323138
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
methylmalonyl-CoA mutase, apoprotein, MUTA_HUMAN, Methylmalonyl-CoA mutase, mitochondrial precursor , MCM
Locations in the PathwayBrowser
External Reference Information
External Reference
Gene Names
MUT
Chain
transit peptide:1-32, chain:33-750
Reference Genes
Reference Transcript
Other Identifiers
 0006380484  11723652_a_at  11723653_at  11758888_at  17019831
 202959_at  202960_s_at  2956439  2956440  2956441
 2956442  2956443  2956444  2956445  2956447
 2956449  2956451  2956452  2956453  2956454
 2956455  2956457  2956458  2956459  2956460
 2956461  2956462  2956463  2956465  2XIJ
 2XIQ  35971  35972  3BIC  40105_at
 4594  62961_at  8126860  A0A024RD82  A_23_P214273
 A_23_P400235  AAA59569  AAA99226  AAH16282  AAP36102
 AK292568  AL590668  ALQ33659  BAF85257  BC016282
 BT007434  CAI14311  CCDS4924  CH471081  EAX04329
 EAX04330  ENSG00000146085  ENSP00000274813  ENST00000274813  g4557766_3p_a_at
 GE58043  GO:0003674  GO:0003824  GO:0004494  GO:0005575
 GO:0005622  GO:0005623  GO:0005737  GO:0005739  GO:0005759
 GO:0006520  GO:0006629  GO:0006790  GO:0008150  GO:0008152
 GO:0009056  GO:0009235  GO:0009791  GO:0016853  GO:0016866
 GO:0019626  GO:0031419  GO:0043167  GO:0043226  GO:0044281
 GO:0046872  GO:0048856  GO:0050667  GO:0072341  HGNC:7526
 HPA035971  HPA035972  Hs.155212.0.A2_3p_at  Hs.485527  ILMN_1785113
 IPR006098  IPR006099  IPR006158  IPR006159  IPR014348
 IPR016176  KU178201  M37499  M37500  M37501
 M37503  M37504  M37505  M37506  M37507
 M37508  M37509  M37510  M65131  M65131_rna1_at
 MIM:251000  MIM:609058  MUT  MUT-201  NCBI Gene:4594
 NM_000255  NP_000246  PF01642  PF02310  PH_hs_0009350
 TC06001782.hg  uc003ozg.5  UPI000013DA28  XM_005249143  XP_005249200
Participant Of
Other forms of this molecule
Disease
Diseases
Name Identifier Synonyms
methylmalonic acidemia 14749 METHYLMALONICACIDURIA DUE TO METHYLMALONIC CoA MUTASE deficiency, METHYLMALONIC ACIDURIA, mut TYPE, METHYLMALONIC ACIDEMIA, cblB TYPE, methylmalonic aciduria mut type, METHYLMALONICACIDURIA, vitamin B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN--cbl B, methylmalonic aciduria cblB type, METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN, cblA TYPE, methylmalonic aciduria, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN, cblB TYPE, METHYLMALONIC ACIDEMIA, cblA TYPE, METHYLMALONICACIDURIA, vitamin B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN--cbl A
Cross References
RefSeq
UCSC human
GeneCards
DOCK Blaster
PRO
HMDB_protein
Protein Data Bank