Carboxypeptidase E
Function
Sorting receptor that directs prohormones to the regulated secretory pathway. Acts also as a prohormone processing enzyme in neuro/endocrine cells, removing dibasic residues from the C-terminal end of peptide hormone precursors after initial endoprotease cleavage.
Involvement in disease
BDV syndrome
BDVS
An autosomal recessive disorder characterized by obesity, intellectual disability, and hypogonadotropic hypogonadism. Additional variable features include central hypothyroidism, hypotonia, and developmental delay.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the peptidase M14 family.
Cellular localization
- Isoform 1
- Cytoplasmic vesicle
- Secretory vesicle
- Cytoplasmic vesicle
- Secretory vesicle membrane
- Peripheral membrane protein
- Secreted
- Associated with the secretory granule membrane through direct binding to lipid rafts in intragranular conditions.
Alternative names
Carboxypeptidase E, CPE, Carboxypeptidase H, Enkephalin convertase, Prohormone-processing carboxypeptidase, CPH