2024年12月25日 · PCSK1 (Proprotein Convertase Subtilisin/Kexin Type 1) is a Protein Coding gene. Diseases associated with PCSK1 include Proprotein Convertase 1/3 Deficiency and Body Mass Index Quantitative Trait Locus 12. Among its related pathways are Incretin synthesis, secretion, and inactivation and Peptide hormone metabolism.

Proprotein convertase 1, also known as prohormone convertase, prohormone convertase 3, or neuroendocrine convertase 1 and often abbreviated as PC1/3 is an enzyme that in humans is encoded by the PCSK1 gene. [5]

PCSK1 , encoding prohormone convertase 1/3 (PC1/3), was one of the first genes linked to monogenic early-onset obesity. PC1/3 is a protease involved in the biosynthetic processing of a variety of neuropeptides and prohormones in endocrine tissues.

2023年2月22日 · PCSK1 deficiency is caused by changes (pathogenic variants or mutations) in the PCSK1 gene and is inherited in an autosomal recessive pattern. Diagnosis is based on a clinical examination, symptoms, laboratory testing and genetic testing.

This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway.

Recently, more common variants in the PCSK1 gene have been found to be associated with alterations in body mass index, increased circulating proinsulin levels, and defects in glucose homeostasis.

In 52 obese children selected for elevated proinsulin levels and/or impaired glucose tolerance, we found eight known variants and two novel heterozygous variants (c.1095 + 1G > A and p.S24C) by sequencing the PCSK1 gene. Patients with the new variants presented with extreme obesity, impaired glucose tolerance, and PCOS.

2016年5月17日 · Recently, more common variants in the PCSK1 gene have been found to be associated with alterations in body mass index, increased circulating proinsulin levels, and defects in glucose homeostasis.

2025年2月8日 · This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway.

2023年5月18日 · we found eight known variants and two novel heterozygous variants (c.1095 + 1G > A and p.S24C), and identified and functionally characterized two rare novel PCSK1 variants of which c.1095 + 1G > A caused complete loss of protein function.