What is PCSK1 gene?

What is PCSK1 gene?

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 Neuroscience.

What is PC1 3?

PC1/3 is an enzyme that performs the proteolytic cleavage of prohormones to their intermediate (or sometimes completely cleaved) forms. PC1 is synthesized as a 99 kDa proform quickly converted to an 87 kDa major active form, which itself is nearly completely cleaved to a 66 kDa active form within neuroendocrine cells.

What are the effects of mutations in the PCSK1 gene?

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.

What is the role of PCSK1 in obesity?

PCSK1 Variants and Human Obesity 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.

What happens to a child with a PCSK1 deficiency?

PCSK1-deficient infants experience severe intestinal malabsorption during the first years of life, requiring controlled nutrition; these children then become hyperphagic, with associated obesity.

Which is transactivated by the PCSK1 promoter?

The PCSK1 promoter contains cAMP-response elements (CRE-1 and CRE-2), which can be transactivated by the transcription factors cAMP-responsive element-binding protein 1 (CREB1) and activating transcription factor 1 (ATF1) ( 8, 9 ).