proprotein convertase 1/3 deficiency

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proprotein convertase 1/3 deficiency2016-11-27T21:01:07+00:00

proprotein convertase 1/3 deficiency 

ENDOCRINOLOGY

An über rare autosomal recessive condition (OMIM:600955) characterised by obesity, hypogonadism, hypoadrenalism, reactive hypoglycemia and marked small-intestinal absorptive dysfunction due to impaired processing of prohormones. 

Molecular pathology Defects in PCSK1, which encodes a convertase involved in processing prohormones and other protein precursors, cause proprotein convertase 1/3 deficiency. 

Synonyms Obesity and endocrinopathy due to impaired processing of prohormones, proprotein convertase 1 deficiency, PC1 deficiency 

References http://www.uniprot.org/uniprot/P29120

http://www.omim.org/entry/600955

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