Nasljedna koproporfirija (HCP) i harderoporfirija su dva fenotipski odvojena poremećaja koji se tiču parcijalnog nedostatka CPOX-a. U dominira HCP neurovisceralna simptomatologija. Dodatno, može biti povezano sa bolovima u stomaku i/ili fotosenzitivnošću kože. U biohemijskim testovima zabilježena je hiperekskrecija koproporfirina III u urinu i fecesu.[12] HCP je autosomno dominantninasljedni poremećaj, dok je harderoporfirija rijetka eritropoetska varijanta oblika HCP-a i nasljeđuje se autosomno recesivno. Klinički, karakterizira ga neonatusnahemolitska anemija. Kod pacijenata sa harderoporfirom, onekad je opisano i prisustvo kožnih lezija sa izraženim fekalnim izlučivanjem harderoporfirina.[13]
Do danas je opisano preko 50 CPOX mutacija koje uzrokuju HCP.[14] Većina ovih mutacija rezultira supstitucijom aminokiselinskih ostataka unutar strukturnog okvira CPOX-a.[15] U pogledu molekulske osnove HCP-a i harderoporfirije, mutacije CPOX-a kod pacijenata sa harderoporfirijom su demonstrirane u području egzona 6, gdje su također identificirane mutacije kod pacijenata sa HCP-om.[16] Kako bi samo pacijenti sa mutacijom u ovoj regiji (K404E) mogli razviti harderoporfiriju, ova mutacija je dovela do smanjenja drugog koraka reakcije dekarboksilacije tokom konverzije koproporfirinogena u protoporfirinogenu IX, što implicira da se aktivno mjesto enzima uključenog u drugi korak dekarboksilacije nalazi u egzonu 6.[14]
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^"Hereditary coproporphyria". Genetic and Rare Diseases Information Center. National Institutes of Health. Arhivirano s originala, 7. 8. 2012. Pristupljeno 8 August 2011.
^"CPOX". Genetics Home Reference. Pristupljeno 8 August 2011.
^Guo R, Lim CK, Peters TJ (October 1988). "Accurate and specific HPLC assay of coproporphyrinogen III oxidase activity in human peripheral leucocytes". Clinica Chimica Acta; International Journal of Clinical Chemistry. 177 (3): 245–52. doi:10.1016/0009-8981(88)90069-1. PMID3233772.
^Martasek P, Nordmann Y, Grandchamp B (March 1994). "Homozygous hereditary coproporphyria caused by an arginine to tryptophane substitution in coproporphyrinogen oxidase and common intragenic polymorphisms". Human Molecular Genetics. 3 (3): 477–80. doi:10.1093/hmg/3.3.477. PMID8012360.
^Taketani S, Kohno H, Furukawa T, Yoshinaga T, Tokunaga R (Jan 1994). "Molecular cloning, sequencing and expression of cDNA encoding human coproporphyrinogen oxidase". Biochimica et Biophysica Acta (BBA) - Bioenergetics. 1183 (3): 547–9. doi:10.1016/0005-2728(94)90083-3. PMID8286403.
^Kim DH, Hino R, Adachi Y, Kobori A, Taketani S (December 2013). "The enzyme engineering of mutant homodimer and heterodimer of coproporphyinogen oxidase contributes to new insight into hereditary coproporphyria and harderoporphyria". Journal of Biochemistry. 154 (6): 551–9. doi:10.1093/jb/mvt086. PMID24078084.
^Heyer NJ, Bittner AC, Echeverria D, Woods JS (February 2006). "A cascade analysis of the interaction of mercury and coproporphyrinogen oxidase (CPOX) polymorphism on the heme biosynthetic pathway and porphyrin production". Toxicology Letters. 161 (2): 159–66. doi:10.1016/j.toxlet.2005.09.005. PMID16214298.
Fujita H, Kondo M, Taketani S, Nomura N, Furuyama K, Akagi R, Nagai T, Terajima M, Galbraith RA, Sassa S (October 1994). "Characterization and expression of cDNA encoding coproporphyrinogen oxidase from a patient with hereditary coproporphyria". Human Molecular Genetics. 3 (10): 1807–10. doi:10.1093/hmg/3.10.1807. PMID7849704.
Delfau-Larue MH, Martasek P, Grandchamp B (August 1994). "Coproporphyrinogen oxidase: gene organization and description of a mutation leading to exon 6 skipping". Human Molecular Genetics. 3 (8): 1325–30. doi:10.1093/hmg/3.8.1325. PMID7987309.
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Daimon M, Gojyou E, Sugawara M, Yamatani K, Tominaga M, Sasaki H (February 1997). "A novel missense mutation in exon 4 of the human coproporphyrinogen oxidase gene in two patients with hereditary coproporphyria". Human Genetics. 99 (2): 199–201. doi:10.1007/s004390050338. PMID9048920. S2CID1813242.
Schreiber WE, Zhang X, Senz J, Jamani A (1997). "Hereditary coproporphyria: exon screening by heteroduplex analysis detects three novel mutations in the coproporphyrinogen oxidase gene". Human Mutation. 10 (3): 196–200. doi:10.1002/(SICI)1098-1004(1997)10:3<196::AID-HUMU3>3.0.CO;2-H. PMID9298818.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (October 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID9373149.
Susa S, Daimon M, Kondo H, Kondo M, Yamatani K, Sasaki H (November 1998). "Identification of a novel mutation of the CPO gene in a Japanese hereditary coproporphyria family". American Journal of Medical Genetics. 80 (3): 204–6. doi:10.1002/(SICI)1096-8628(19981116)80:3<204::AID-AJMG4>3.0.CO;2-G. PMID9843038.
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