GenTIGSA Gene Database on Rare Genetic Disorders

Propionyl-CoA carboxylase subunit beta (PCCB) Associated conditions:  1. Propionic acidemia 
mRNA Information: Transcript Variants and Protein Isoforms
SNo. Status mRNA accession Protein accession Genomic DNA accession (Chromosome) mRNA location on genomic DNA Assembly UniProtkb ID
1 REVIEWED NM_000532.5 NP_000523.2 NC_000003.12 (136250339..136330168) Reference GRCh38.p14 Primary Assembly -
2 REVIEWED NM_001178014.2 NP_001171485.1 NC_000003.12 (136250339..136330168) Reference GRCh38.p14 Primary Assembly -

Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.

PubMed Links for Transcript Variants (Isoforms)
Link 1127 reference articles

Variant Information Propionyl-CoA carboxylase subunit beta (PCCBMutation Visualization Dashboard: Pathogenic variant distribution chart
ClinVar variants:Revealing mutagenic patterns

GO Term of Propionyl-CoA carboxylase subunit beta (PCCB)
SNo. Reported in speceis Evidence Qualifier GO term Category Pubmed Link
1Homo sapiensIEAenablesnucleotide bindingFunction
2Homo sapiensIBAenablespropionyl-CoA carboxylase activityFunction
3Homo sapiensIDAenablespropionyl-CoA carboxylase activityFunction6765947 
4Homo sapiensIEAenablespropionyl-CoA carboxylase activityFunction
5Homo sapiensIPIenablesprotein bindingFunction20725044 32296183 33961781 
40205054 
6Homo sapiensIEAenablesATP bindingFunction
7Homo sapiensHTPlocated_inmitochondrionComponent34800366 
8Homo sapiensIBAis_active_inmitochondrionComponent
9Homo sapiensTASlocated_inmitochondrionComponent8188292 
10Homo sapiensIDAlocated_inmitochondrial matrixComponent16023992 
11Homo sapiensIEAlocated_inmitochondrial matrixComponent
12Homo sapiensNASlocated_inmitochondrial matrixComponent29033250 
13Homo sapiensTASlocated_inmitochondrial matrixComponent
14Homo sapiensTASlocated_incytosolComponent
15Homo sapiensNASinvolved_infatty acid metabolic processProcess29033250 
16Homo sapiensIEAinvolved_infatty acid catabolic processProcess
17Homo sapiensNASinvolved_inbranched-chain amino acid metabolic processProcess29033250 
18Homo sapiensIEAenablesligase activityFunction
19Homo sapiensICinvolved_inshort-chain fatty acid catabolic processProcess6765947