The PCCA gene homepage

General information
Gene symbol PCCA
Gene name propionyl CoA carboxylase, alpha polypeptide
Chromosome 13
Chromosomal band q32
Imprinted Unknown
Genomic reference NG_008768.1
Transcript reference NM_000282.3
Exon/intron information NM_000282.3 exon/intron table
Associated with diseases acidemia, propionic
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 101
Unique public DNA variants reported 79
Individuals with public variants 41
Hidden variants 4
Download all this gene's data Download all data
Notes For this database we have collaborated with the Kraus lab and their databases for deficiency of cystathionine beta-synthase (CBS) and propionyl CoA carboxylase (PCC). Most data collected derive from the PCCA database (Jan P. Kraus, Sarah Venezia & Mirek Janosik) and we refer to the original source for more detailed information.
Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created April 29, 2010
Date last updated May 09, 2022
Version PCCA:220509

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_000282.3.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
External URL Propionyl CoA Carboxylase databases main page
HGNC 8653
Entrez Gene 5095
PubMed articles PCCA
OMIM - Gene 232000
OMIM - Diseases acidemia, propionic
GeneCards PCCA
GeneTests PCCA
Orphanet PCCA

Active transcripts




NCBI ID     

NCBI Protein ID     

00015732 13 transcript variant 1 NM_000282.3 NP_000273.2 101

Copyright & disclaimer
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