Human Gene Set: HP_ABNORMAL_CIRCULATING_C_PEPTIDE_CONCENTRATION


Standard name HP_ABNORMAL_CIRCULATING_C_PEPTIDE_CONCENTRATION
Systematic name M38404
Brief description Abnormal circulating C-peptide concentration
Full description or abstract An anomolous circulating concentration of the connecting (C) peptide, which links the insulin A and B chains in proinsulin, providing thereby a means to promote their efficient folding and assembly in the endoplasmic reticulum during insulin biosynthesis. After cleavage of proinsulin, C-peptide is stored with insulin in the soluble phase of the secretory granules and is subsequently released in equimolar amounts with insulin, providing a useful independent indicator of insulin secretion. [https://orcid.org/0000-0002-0736-9199, PMID:15198367]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0030794
Related gene sets  
External links https://hpo.jax.org/app/browse/term/HP:0030794
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Source species Homo sapiens
Contributed by Human Phenotype Ontology Group (The Jackson Laboratory (JAX))
Source platform or
identifier namespace		 Human_NCBI_Gene_ID
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Version history 2023.1.Hs: Renamed from HP_ABNORMAL_C_PEPTIDE_LEVEL. Updated to HPO Release 2023-01-27.

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