| Type | Description |
|---|---|
| Definition | propionyl-CoA carboxylase subunit beta |
| Date | Results | Publications |
|---|---|---|
| 2021-04-03 13:37:00 | Gene diagnosis and pedigree analysis of two Han ethnicity families with propionic acidemia in Fujian. | 33725819 |
| 2019-06-22 10:28:00 | his work represents a large-scale update on pathogenic mutations in the PCCA and PCCB genes causing Propionic acidemia (PA), and confirms previous reports indicating a major causative role of mutation-induced protein destabilization | 30274917 |
| 2017-12-16 11:22:00 | Recurrent lactic acid elevations were present in six out of the eight patients. Five of the eight patients were diagnosed with Autism Spectrum Disorder, four of them had pathogenic variants in PCCB | 27825584 |
| 2017-07-01 12:34:00 | we identified seven novel genetic variants: p.Leu549Pro, p.Glu564*, p.Leu641Pro in MUT, p.Tyr206Cys in PCCB, p.His194Arg, p.Val298Met in BCKDHA and p.Glu286_Met290del in BCKDHB gene. In silico and/or eukaryotic expression studies confirmed pathogenic effect of all novel genetic variants | 26830710 |
| 2017-04-08 10:17:00 | The majority of patients had mutations in the PCCA gene (18/25). A total of 26 mutations were noted: 20 in the PCCA gene and 6 in PCCB gene. Seventeen mutations were novel (14 in PCCA and 3 in PCCB). | 27227689 |
| Type | IDs |
|---|---|
| Gene |
UniProtKB-ID:
PCCB_HUMAN
UniprotKB:
P05166
UniParc:
UPI000020A2DD,
UPI000006FE6C
EMBL:
S67325,
CH471052,
AJ006495,
M31169,
AJ006492,
AC069524,
AJ006487,
M13573,
AJ006488,
AJ006489,
AJ006493,
AJ006498,
AJ006491,
AJ006496,
AJ006494,
AJ006497,
AK295312,
AJ006490,
BC053661,
AJ006499,
M31167,
X73424,
BC013768
Ensembl:
ENSG00000114054
KO:
hsa:5096
|
| Nucleutide sequences |
EMBL-CDS:
AAA60036.1,
AAA60038.1,
CAA51825.1,
BAH12030.1,
AAH53661.1,
AAA60037.1,
EAW79118.1,
AAB28900.1,
AAH13768.1,
CAA07066.1
Ensembl_TRS:
ENST00000469217,
ENST00000251654
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000251654,
ENSP00000419027
RefSeq:
XP_011511175.1,
NP_000523.2,
NP_001171485.1
|
| Others |
UniRef100:
UniRef100_P05166
UniRef90:
UniRef90_P05166
UniRef50:
UniRef50_P05166
UniGene:
Hs.63788
CCDS:
CCDS54643.1,
CCDS3089.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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