Defective CYP26C1 causes Focal facial dermal dysplasia 4 (FFDD4)

Stable Identifier
R-HSA-5579004
Type
Pathway
Species
Homo sapiens
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Retinoic acid (RA) is a biologically active analogue of vitamin A (retinol). RA plays an important role in regulating cell growth and differentiation. CYP26C1 is involved in the metabolic breakdown of RA by 4-hydroxylation. While CYP26C1 can hydroxylate the trans form, it is unique in hydroxylating the 9-cis isomer of RA (9cRA) (Taimi et al. 2004). Defects in CYP26C1 can cause focal facial dermal dysplasia 4 (FFDD4; MIM:614974), a rare syndrome characterised by facial lesions.

Literature References
PubMed ID Title Journal Year
14532297 A novel human cytochrome P450, CYP26C1, involved in metabolism of 9-cis and all-trans isomers of retinoic acid

Taimi, M, Helvig, C, Wisniewski, J, Ramshaw, H, White, J, Amad, M, Korczak, B, Petkovich, M

J Biol Chem 2004
23161670 Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1

Slavotinek, AM, Mehrotra, P, Nazarenko, I, Tang, PL, Lao, R, Cameron, D, Li, B, Chu, C, Chou, C, Marqueling, AL, Yahyavi, M, Cordoro, K, Frieden, I, Glaser, T, Prescott, T, Morren, MA, Devriendt, K, Kwok, PY, Petkovich, M, Desnick, RJ

Hum. Mol. Genet. 2013
Participants
Participant Of
Disease
Name Identifier Synonyms
skin benign neoplasm 3165 neoplasm of skin (disorder), tumor of the skin, neoplasm of skin by site, skin neoplasm
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