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

Смотрите также:

  • PCC Ген (ген пропионил КоА карбоксилазы - PCCA и PCCB, ген пропионил КоА карбоксилазы - альфа и бета)
  • PCC Ген: мутации гена
  • Gene: [17q21/ACACA] acetyl-CoA carboxylase alpha (265kD; EC:6.4.1.2); biotin carboxylase (EC:6.3.4.14); acetyl-CoA carboxylase deficiency;
  • пропионил-CoA-карбоксилаза-HUGEN