PR:000026111 methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial sequence variant MCCA D532H (human) hMCCC1/var:MCCA D532H has_agent SO:0001630 splice_region_variant PMID:11181649 EXP NCBITaxon:9606 20101130 PRO:CNA PR:000026111 methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial sequence variant MCCA D532H (human) hMCCC1/var:MCCA D532H associated_with_disease_progression DOID:0050710 3-Methylcrotonyl-CoA carboxylase deficiency PMID:11181649 EXP NCBITaxon:9606 20101130 PRO:CNA Note=Severe form of disease.