Gene: [06p21/MUT] methylmalonyl coenzyme A mutase; methylmalonicaciduria due to MCM deficiency;

FUN

[1] Systematic name: methylmalonyl-CoA:CoA-carbonylmutase. The reaction catalyzed: methylmalonyl-CoA = succinyl-CoA.
[2] The holoenzyme catalyzes the degradation of valine, isoleucine, threonine, methionine, thymine, cholesterol, and fatty acids (odd-chain). The cofactor is adenosine-cobalamine."

MOP

The apoenzyme is a homodimere. The monomere MM is 72-77 kD.

PRO

The probe MCM26 contains a cDNA fragment >2 kb in the vector LAMBDA-GT11. There are three insertions of the EcoRI fragment: 5'-part = 280 bp, middle = 1640 bp (MCM26B), and 3'-part = ORF (coding region)."

REF

PAT,MUT "Affara NA &: Genomics, 22, 205-210, 1994
COD,SEQ "Blanche H &: Genomics, 9, 420-428, 1991
PAT,MUT "Crane AM &: AJHG, 55, 42-50, 1994
COD,SEQ "Ledley FD &: PNAS, 87, 3147-3150, 1990
LOC,PRO "Ledley FD &: AJHG, 42, 839-846, 1988
COD,SEQ "Nham SU &: Genomics, 8, 710-716, 1990
PAT,MUT "Ogasawara M &: Hum Mol Genet, 3, 867-872, 1994
PAT,MUT "Touraine RL &: Hum Mut, 5, 354-356, 1995
LIN,MAP "Zoghbi HY &: Genomics, 3, 396-398, 1988

KEY

aac, lip, mito

CLA

coding, basic

LOC

06 p21.2-.1

MIM

MIM: 251000

EZN

ENZYME: 5.4.99.2

Ссылки: