AlphaFold predicted structure
PCCA · P05165
Mean pLDDT
87.4/ 100
Confident
728 residues
Confidence breakdown
- Very high(≥ 90)70%
- Confident(70–90)20%
- Low(50–70)3%
- Very low(< 50)7%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
PCCA
Chr 13q32.3propionyl-CoA carboxylase subunit alpha
- MANE:
- ENST00000376285.6
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Childhood onset dystonia, chorea or related movement disorder
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalEarly onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalHyperammonaemia
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalKetotic hypoglycaemia
BIALLELIC, autosomal or pseudoautosomalLikely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalPaediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomal
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Disease associations (Open Targets)
propionic acidemia
0.85hereditary disease
0.49familial dilated cardiomyopathy
0.37neurodegenerative disease
0.36pontocerebellar hypoplasia type 2D
0.34risk-taking behaviour
0.32mathematical ability
0.32male reproductive organ cancer
0.31substance abuse
0.30attention deficit-hyperactivity disorder
0.30
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Propionyl-CoA carboxylase alpha chain, mitochondrial
This is one of the 2 subunits of the biotin-dependent propionyl-CoA carboxylase (PCC), a mitochondrial enzyme involved in the catabolism of odd chain fatty acids, branched-chain amino acids isoleucine, threonine, methionine, and valine and other metabolites (PubMed:6765947, PubMed:8434582). Propionyl-CoA carboxylase catalyzes the carboxylation of propionyl-CoA/propanoyl-CoA to D-methylmalonyl-CoA/(S)-methylmalonyl-CoA (PubMed:10101253, PubMed:6765947, PubMed:8434582). Within the holoenzyme, the alpha subunit catalyzes the ATP-dependent carboxylation of the biotin carried by the biotin carboxyl carrier (BCC) domain, while the beta subunit then transfers the carboxyl group from carboxylated biotin to propionyl-CoA (By similarity). Propionyl-CoA carboxylase also significantly acts on butyryl-CoA/butanoyl-CoA, which is converted to ethylmalonyl-CoA/(2S)-ethylmalonyl-CoA at a much lower rate (PubMed:6765947). Other alternative minor substrates include (2E)-butenoyl-CoA/crotonoyl-CoA (By similarity)
Diseases associated with PCCA
Curated MONDO disease pages that list PCCA among their top associated genes.