MGP Database

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MGP007014

UniProt Annotations

Entry Information
Gene Namecytochrome P450, family 26, subfamily C, polypeptide 1
Protein EntryCP26C_HUMAN
UniProt IDQ6V0L0
SpeciesHuman
Comments
Comment typeDescription
CofactorName=heme; Xref=ChEBI:CHEBI:30413; Evidence={ECO:0000250};
DiseaseFocal facial dermal dysplasia 4 (FFDD4) [MIM:614974]: A form of focal facial dermal dysplasia, a group of developmental defects characterized by bitemporal or preauricular skin lesions resembling aplasia cutis congenita. Skin defects occur at the sites of facial fusion during embryogenesis, with temporal lesions situated at the junction between the frontonasal and maxillary facial prominences, and preauricular lesions at the meeting point of the maxillary and mandibular prominences. The ectodermal lesions show consistent histologic abnormalities: atrophy and flattening of the epidermis, replacement of the dermis by loose connective tissue, reduced levels of fragmented elastic tissue and absence of the subcutaneous tissues and adnexal structures. FFDD4 is characterized by isolated, preauricular skin lesions. {ECO:0000269|PubMed:23161670}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionPlays a role in retinoic acid metabolism. Acts on retinoids, including all-trans-retinoic acid (RA) and its stereoisomer 9-cis-RA (preferred substrate).
InductionBy retinoic acid. {ECO:0000269|PubMed:14532297}.
SimilarityBelongs to the cytochrome P450 family. {ECO:0000305}.
Subcellular LocationMembrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
Tissue SpecificityDetected in most tissues at very low level. {ECO:0000269|PubMed:14532297}.
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