proprotein convertase 1 deficiency(redirected from PC1 deficiency)
proprotein convertase 1 deficiencyAn extremely rare autosomal recessive condition (OMIM:600955) characterised by obesity, hypogonadism, hypoadrenalism, reactive hypoglycaemia and marked small intestinal absorptive dysfunction due to impaired processing of prohormones.
Defects in PCSK1, which encodes a convertase involved in processing prohormones and other protein precursors, cause proprotein convertase 1 deficiency.
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