DISEASES

Disease-gene associations mined from literature

Literature associating ECHDC1 and extratemporal epilepsy

ECHDC1 [ENSP00000436585]

Enoyl-CoA hydratase domain-containing protein 1; Decarboxylases ethylmalonyl-CoA decarboxylase, 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.

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

Linkouts:  STRING  Pharos  UniProt  OMIM