PCCB_HUMAN
Source:
PM23856902
Marked as 'Non-membrane protein'
Confidence:
low (only semi-automatic identification from reviews)
Search PubMed for
(RBC AND this entry)
Gene names:
PCCB
Protein names and data:
PCCB_HUMAN
, Propionyl-CoA carboxylase beta chain, mitochondrial; PCCase subunit beta; 6.4.1.3
, Propanoyl-CoA:carbon dioxide ligase subunit beta; Flags: Precursor
Lenght: 539 a.a.
Mass: 58216 Da
fasta formatted sequence
Catalytic activity:
ATP + propanoyl-CoA + HCO(3)(-) = ADP + phosphate + (S)-methylmalonyl-CoA.
Pathway:
Metabolic intermediate metabolism; propanoyl-CoA degradation; succinyl-CoA from propanoyl-CoA: step 1/3.
Disease:
( OMIM:
232050
606054
)
Propionic acidemia type II (PA-2) [MIM:606054]: Life- threatening disease characterized by episodic vomiting, lethargy and ketosis, neutropenia, periodic thrombocytopenia, hypogammaglobulinemia, developmental retardation, and intolerance to protein. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location:
Mitochondrion matrix.
Genetic variants
17 - 17
L -> M (in PA-2). VAR_009080
44 - 44
R -> P (in PA-2). VAR_000271
67 - 67
R -> S (in PA-2). VAR_023847
106 - 106
S -> R (in PA-2). VAR_000272
107 - 107
V -> M (in PA-2). VAR_023848
112 - 112
G -> D (in PA-2). VAR_023849
131 - 131
G -> R (in PA-2). VAR_000273
140 - 140
K -> KICK (in PA-2). VAR_009081
153 - 153
A -> P (in PA-2). VAR_023850
165 - 165
R -> Q (in PA-2; does not affect either heteromeric or homomeric assembly). VAR_023851
165 - 165
R -> W (in PA-2). VAR_000274
168 - 168
E -> K (in PA-2; common mutation). VAR_000275
188 - 188
G -> R (in PA-2). VAR_023852
198 - 198
G -> D (in PA-2). VAR_000276
205 - 205
V -> D (in PA-2). VAR_009082
228 - 228
P -> L (in PA-2). VAR_009083
246 - 246
G -> V (in PA-2). VAR_023853
287 - 287
P -> S (in dbSNP:rs2228310). VAR_048163
2228310
341 - 341
Missing (in PA-2). VAR_023854
408 - 408
Missing (in PA-2). VAR_000277
410 - 410
R -> W (in PA-2). VAR_000278
428 - 428
T -> I (in PA-2; dbSNP:rs28934887). VAR_009084
28934887
430 - 430
I -> L (in PA-2). VAR_023855
435 - 435
Y -> C (in PA-2). VAR_023856
439 - 439
Y -> C (in PA-2). VAR_023857
442 - 442
M -> T (in PA-2). VAR_009085
468 - 468
A -> T (in PA-2). VAR_023858
497 - 497
A -> V (in PA-2; common mutation; does not affect either heteromeric or homomeric assembly; dbSNP:rs142403318). VAR_000279
142403318
512 - 512
R -> C (in PA-2; affects heteromeric and homomeric assembly; dbSNP:rs186710233). VAR_000280
186710233
519 - 519
L -> P (in PA-2; affects heteromeric and homomeric assembly). VAR_000281
536 - 536
N -> D (in PA-2; affects heteromeric and homomeric assembly). VAR_009086
Database cross-references
UniProt:
P05166
Ensembl:
ENST00000251654
Ensembl:
ENST00000469217
MIM:
232050
MIM:
606054
neXtProt:
NX_P05166
Antibodypedia:
P05166
(may not find the protein thus also not any antibody)
Local full text data:
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