DISEASES

Disease-gene associations mined from literature

Literature on ECHDC1

ECHDC1 [ENSP00000436585]

Ethylmalonyl-CoA decarboxylase; Decarboxylates ethylmalonyl-CoA, a potentially toxic metabolite, to form butyryl-CoA, suggesting it might be involved in metabolite proofreading . Also has methylmalonyl-CoA decarboxylase activity at lower level (By similarity).

Synonyms:  ECHDC1,  ECHDC1p,  hECHDC1,  E9PIU8,  E9PJS8 ...

Linkouts:  STRING  Pharos  UniProt  OMIM