Gene: [03q2/PCCB] propionyl-CoA carboxylase, beta polypeptide; hyperglycinemia II (propionicacidemia, glycinemia ketotic II);
|
GEN |
Two mRNA species have been identified; their lengths are 4.5 and 2 kb. |
|
FUN |
Systematic name: propanoyl-CoA:carbon dioxide ligase (ADP-forming). The catalyzed reaction: ATP + propanoyl-CoA + HCO(3-) = = ADP + orthophosphate + (S)-methylmalonyl-CoA." |
|
MOP |
[1] MM of the beta peptide is 60 kD.
[2] Active propionyl-CoA carboxylase (a biotin-dependent mitochondrial enzyme) contains also an alpha peptide (see GEM:13q32/PCCA)." |
|
FAG |
A gene for alpha peptide is mapped to Chr 13: GEM:13q32/PCCA. |
|
PAT |
See GEM:13q32/PCCA[:PAT]. |
|
HET |
See GEM:13q32/PCCA[:HET]. |
|
PRO |
pPCC41A2: pCD/BamHI/1.35 |
|
POL |
[1] EcoRI: A1= 9.5 kb (f= 0.63); A2= 9.0 (0.37);
[2] PstI: B1= 10.2 kb (f= 0.90); B2= 7.8 (0.10); C1= 6.0 kb (f= 0.47); C2= 1.7 (0.53)" |
|
REF |
FUN,MOP,STR "Gravel &: Arch Biochem Biophys, 201, 669-673, 1980 PAT,MEB,FOG "Gravel &: AJHG, 29, 378-388, 1977 FUN,MOP,STR "Kalousek &: JBC, 255, 60-65, 1980 PAT,MEB,FOG "Kidd &: AJHG, 32, 236-245, 1980 LOC,MOL,EVO "Kraus JP &: PNAS, 83, N7, 2047-2051, 1986 CLO,SEQ,EXP,LOC,PRO,POL "Lamhonwah AM &: PNAS, 83, N13, 4864-4868, 1986 PRO,POL "Waye JS &: NAR, 16, 2362, 1988 PAT,MEB,FOG "Wolf, Rosenberg: J Clin Invest, 62, 931-936, 1978 LOC,MOL,EVO "Yang-Feng TL &: CCG, 40, (HGM8), 783, 1985 |
|
KEY |
aac, lip, mtbd, mito |
|
CLA |
coding, basic |
|
LOC |
03 q21-22 |
|
MIM |
MIM: 232050 |
|
EZN |
ENZYME: 6.4.1.3 |
