MMAB
entrez
326625
canonical
uniprot
Q96EY8
canonical
ensembl
ENSG00000139428
resolver
ensp
ENSP00000445920
resolver
enst
ENST00000545712
resolver
genesymbol
MMAB
resolver
hgnc
HGNC:19331
resolver
uniprot
B4DHP4
resolver
uniprot
C5HU05
resolver
uniprot
Q9BSH0
resolver
uniprot_entry
B4DHP4_HUMAN
resolver
uniprot_entry
MMAB_HUMAN
resolver
uniprot_sec
C5HU05
resolver
uniprot_sec
Q9BSH0
resolver
amino_acid_sequence
MAVCGLGSRLGLGSRLGLRGCFGAARLLYPRFQSRGPQGVEDGDRPQPSSKTPRIPKIYTKTGDKGFSSTFTGERRPKDDQVFEAVGTTDELSSAIGFALELVTEKGHTFAEELQKIQCTLQDVGSALATPCSSAREAHLKYTTFKAGPILELEQWIDKYTSQLPPLTAFILPSGGKISSALHFCRAVCRRAERRVVPLVQMGETDANVAKFLNRLSDYLFTLARYAAMKEGNQEKIYMKNDPSAESEGL
uniprot
proteins
disease_involvement
DISEASE: Methylmalonic aciduria, cblB type (MACB) [MIM:251110]: An autosomal recessive disorder of methylmalonate and cobalamin metabolism due to defective synthesis of adenosylcobalamin. {ECO:0000269|PubMed:12471062, ECO:0000269|PubMed:15781192, ECO:0000269|PubMed:17957493}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.5.1.-
uniprot
proteins
function
FUNCTION: Converts cob(I)alamin to adenosylcobalamin (adenosylcob(III)alamin), a coenzyme for methylmalonyl-CoA mutase, therefore participates in the final step of the vitamin B12 conversion (PubMed:12514191). Generates adenosylcobalamin (AdoCbl) and directly delivers the cofactor to MUT in a transfer that is stimulated by ATP-binding to MMAB and gated by MMAA (Probable). {ECO:0000269|PubMed:12514191, ECO:0000305|PubMed:28497574}.
uniprot
proteins
mass_dalton
27388
uniprot
proteins
protein_family
Cob(I)alamin adenosyltransferase family
uniprot
proteins
pubmed
12471062
uniprot
proteins
pubmed
12514191
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15781192
uniprot
proteins
pubmed
17176040
uniprot
proteins
pubmed
17957493
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
28497574
uniprot
proteins
sequence_length
250
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000305}.
uniprot
proteins