CYP26C1

CYP26C1 (Cytochrome P450 Family 26 Subfamily C Member 1) is a Protein Coding gene. Diseases associated with CYP26C1 include Focal Facial Dermal Dysplasia 4 and Focal Facial Dermal Dysplasia. Among its related pathways are Metabolism and Cytochrome P450 - arranged by substrate type. Gene Ontology (GO) annotations related to this gene include iron ion binding and oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen. An important paralog of this gene is CYP26B1.

Full Name

Cytochrome P450 Family 26 Subfamily C Member 1

Function

Plays a role in retinoic acid metabolism. Acts on retinoids, including all-trans-retinoic acid (RA) and its stereoisomer 9-cis-RA (preferred substrate).

Biological Process

Anterior/posterior pattern specification Source: BHF-UCL
Central nervous system development Source: BHF-UCL
Negative regulation of retinoic acid receptor signaling pathway Source: BHF-UCL
Neural crest cell development Source: BHF-UCL
Organelle fusion Source: BHF-UCL
Retinoic acid catabolic process Source: BHF-UCL
Sterol metabolic process Source: GO_Central
Vitamin metabolic process Source: Reactome

Cellular Location

Membrane

Involvement in disease

Focal facial dermal dysplasia 4 (FFDD4):
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.

Topology

Helical: 9-29