HMBS

HMBS
hidroximetilbilano sintasa
HUGO 4982
Símbolo HMBS
Símbolos alt. PBGD, UPS
Datos genéticos
Locus Cr. 11 q23.2-qter
Bases de datos
Número EC 2.5.1.61
Entrez 3145
OMIM 609806
RefSeq NM_000190
UniProt P08397

La porfobilinógeno deaminasa (o hidroximetilbilano sintasa) es una enzima, codificada por el gen HMBS, que está involucrada en el tercer paso del metabolismo de la porfirina, donde se convierte el porfobilinógeno en hidroximetilbilano. Actividad defectiva en este enzima puede llevar a sufrir el desorden conocido como porfiria aguda intermitente.

Rutas de la síntesis del grupo hemo. Nótese que algunas reacciones tienen lugar en el citoplasma y otras en la mitocondria (amarillo)

Fuentes antiguas categorizan este enzima bajo el número EC: 4.3.1.8.


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