PCCA Chromosome 13
Propionyl-CoA carboxylase subunit alpha
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What This Gene Does
The protein encoded by this gene is the alpha subunit of the heterodimeric mitochondrial enzyme Propionyl-CoA carboxylase. PCCA encodes the biotin-binding region of this enzyme. Mutations in either PCCA or PCCB (encoding the beta subunit) lead to an enzyme deficiency resulting in propionic acidemia. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010]
Gene Info
Gene Group
Propionyl-CoA carboxylase subunits
Locus Type
gene with protein product
Location
13q32.3
Ensembl
ENSG00000175198
Associated Conditions (25)
Propionic acidemia
PCCA-related disorder
Nonpapillary renal cell carcinoma
Inborn genetic diseases
Uterine corpus endometrial carcinoma
Thyroid cancer
nonmedullary
1
Melanoma
Hepatocellular carcinoma
Malignant tumor of esophagus
Ovarian serous cystadenocarcinoma
Thymoma
Lung cancer
Clear cell carcinoma of kidney
Uveal melanoma
Colorectal cancer
Gastric cancer
Uterine carcinosarcoma
Adrenocortical carcinoma
+5 more conditions
Key Variants
RS1064793224
Conflicting classifications of pathogenicity
Propionic acidemia, Propionic acidemia
Health Risk
RS112237881
Conflicting classifications of pathogenicity
Propionic acidemia, PCCA-related disorder, Nonpapillary renal cell carcinoma
Health Risk
RS118169528
Conflicting classifications of pathogenicity
Propionic acidemia, Propionic acidemia
Health Risk
RS137861347
Conflicting classifications of pathogenicity
Propionic acidemia, Propionic acidemia, Propionic acidemia
Health Risk
RS142646074
Conflicting classifications of pathogenicity
Propionic acidemia, PCCA-related disorder, Propionic acidemia
Health Risk
RS143838146
Conflicting classifications of pathogenicity
Propionic acidemia, PCCA-related disorder, Propionic acidemia
Health Risk
RS146870931
Conflicting classifications of pathogenicity
Propionic acidemia, Propionic acidemia
Health Risk
RS146927771
Conflicting classifications of pathogenicity
Propionic acidemia, Inborn genetic diseases, Propionic acidemia
Health Risk
RS149293297
Conflicting classifications of pathogenicity
Propionic acidemia, Propionic acidemia
Health Risk
RS150352833
Conflicting classifications of pathogenicity
Propionic acidemia, PCCA-related disorder, Propionic acidemia
Health Risk
RS150788587
Conflicting classifications of pathogenicity
Propionic acidemia, Inborn genetic diseases, Propionic acidemia
Health Risk
RS1555342581
Conflicting classifications of pathogenicity
Propionic acidemia, Propionic acidemia
Health Risk
All Variants (289)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2547923770 | Health Risk | Pathogenic | Propionic acidemia, Propionic acidemia |
| RS2547977438 | Health Risk | Pathogenic | Propionic acidemia, Propionic acidemia |
| RS2547977587 | Health Risk | Pathogenic | Propionic acidemia, Propionic acidemia |
| RS2548113260 | Health Risk | Pathogenic | Propionic acidemia, Propionic acidemia |
| RS2548113423 | Health Risk | Pathogenic | Propionic acidemia, Propionic acidemia |
| RS2548113928 | Health Risk | Pathogenic | Propionic acidemia, Propionic acidemia |
| RS2548142680 | Health Risk | Pathogenic | PCCA-related disorder, PCCA-related disorder |
| RS2548154497 | Health Risk | Pathogenic | Propionic acidemia, Propionic acidemia |
| RS2548154517 | Health Risk | Pathogenic | Propionic acidemia, Propionic acidemia |
| RS2548249489 | Health Risk | Pathogenic | Propionic acidemia, Propionic acidemia |
| RS2548306210 | Health Risk | Pathogenic | Propionic acidemia, Propionic acidemia |
| RS2548445790 | Health Risk | Pathogenic | Propionic acidemia, Nonpapillary renal cell carcinoma, Propionic acidemia |
| RS2548676923 | Health Risk | Pathogenic | Propionic acidemia, Propionic acidemia |
| RS2548677635 | Health Risk | Pathogenic | Propionic acidemia, Propionic acidemia |
| RS2549049277 | Health Risk | Pathogenic | Propionic acidemia, Propionic acidemia |
| RS2549086417 | Health Risk | Pathogenic | Propionic acidemia, Propionic acidemia |
| RS372093520 | Health Risk | Pathogenic | Propionic acidemia, Propionic acidemia, Propionic acidemia |
| RS398123297 | Health Risk | Pathogenic | Propionic acidemia, Propionic acidemia |
| RS532947142 | Health Risk | Pathogenic | Propionic acidemia, Propionic acidemia |
| RS573607437 | Health Risk | Pathogenic | Propionic acidemia, PCCA-related disorder, Propionic acidemia |
| RS745571507 | Health Risk | Pathogenic | Propionic acidemia, Propionic acidemia |
| RS746286209 | Health Risk | Pathogenic | Propionic acidemia, Propionic acidemia, Propionic acidemia |
| RS746733688 | Health Risk | Pathogenic | Propionic acidemia, Propionic acidemia |
| RS750840362 | Health Risk | Pathogenic | Propionic acidemia, Propionic acidemia |
| RS776281864 | Health Risk | Pathogenic | Propionic acidemia, Propionic acidemia |
| RS776496862 | Health Risk | Pathogenic | Propionic acidemia, Propionic acidemia |
| RS776821944 | Health Risk | Pathogenic | Propionic acidemia, Propionic acidemia |
| RS776978090 | Health Risk | Pathogenic | Propionic acidemia, Propionic acidemia |
| RS781030239 | Health Risk | Pathogenic | Propionic acidemia, Propionic acidemia |
| RS796052019 | Health Risk | Pathogenic | Propionic acidemia, Pontocerebellar hypoplasia type 2D, Propionic acidemia |
| RS879253801 | Health Risk | Pathogenic | Propionic acidemia, Propionic acidemia |
| RS879253806 | Health Risk | Pathogenic | Propionic acidemia, Propionic acidemia |
| RS879253808 | Health Risk | Pathogenic | Propionic acidemia, Propionic acidemia |
| RS879253809 | Health Risk | Pathogenic | Propionic acidemia, Propionic acidemia |
| RS879253811 | Health Risk | Pathogenic | Propionic acidemia, Propionic acidemia |
| RS879253812 | Health Risk | Pathogenic | Propionic acidemia, Propionic acidemia |
| RS999936193 | Health Risk | Pathogenic | Propionic acidemia, Propionic acidemia |
| RS1164986524 | Health Risk | Pathogenic/Likely pathogenic | Propionic acidemia, Propionic acidemia |
| RS121964957 | Health Risk | Pathogenic/Likely pathogenic | Propionic acidemia, Propionic acidemia, Propionic acidemia |
| RS121964958 | Health Risk | Pathogenic/Likely pathogenic | Propionic acidemia, Propionic acidemia |
| RS1295357399 | Health Risk | Pathogenic/Likely pathogenic | Propionic acidemia, Propionic acidemia |
| RS1301904623 | Health Risk | Pathogenic/Likely pathogenic | Propionic acidemia, Propionic acidemia, Gastric cancer |
| RS1317003529 | Health Risk | Pathogenic/Likely pathogenic | Propionic acidemia, Propionic acidemia |
| RS1323994245 | Health Risk | Pathogenic/Likely pathogenic | Propionic acidemia, Propionic acidemia |
| RS1367867218 | Health Risk | Pathogenic/Likely pathogenic | Propionic acidemia, Propionic acidemia |
| RS1387778734 | Health Risk | Pathogenic/Likely pathogenic | Propionic acidemia, Propionic acidemia |
| RS1389933015 | Health Risk | Pathogenic/Likely pathogenic | Propionic acidemia, Propionic acidemia |
| RS1443858896 | Health Risk | Pathogenic/Likely pathogenic | Propionic acidemia, Propionic acidemia |
| RS1444049793 | Health Risk | Pathogenic/Likely pathogenic | Propionic acidemia, Propionic acidemia |
| RS1467680142 | Health Risk | Pathogenic/Likely pathogenic | Propionic acidemia, Propionic acidemia |