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CYP26B1

Chr 2p13.2

cytochrome P450 family 26 subfamily B member 1

Aliases:
P450RAI-2
MANE:
ENST00000001146.7

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Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal
  • Rare syndromic craniosynostosis or isolated multisuture synostosis

    BIALLELIC, autosomal or pseudoautosomal
  • Limb disorders

    BIALLELIC, autosomal or pseudoautosomal
  • Osteogenesis imperfecta

  • Skeletal dysplasia

Disease associations (Open Targets)

  • lethal occipital encephalocele-skeletal dysplasia syndrome

    0.71
  • craniosynostosis

    0.41
  • tinea unguium

    0.39
  • schizophrenia

    0.35
  • osteoarthritis, hand

    0.34
  • placental retention

    0.33
  • asthma

    0.32
  • duodenitis

    0.30
  • placenta praevia

    0.29
  • ovarian neoplasm

    0.25

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Cytochrome P450 26B1

A cytochrome P450 monooxygenase involved in the metabolism of retinoates (RAs), the active metabolites of vitamin A, and critical signaling molecules in animals (PubMed:10823918, PubMed:22020119). RAs exist as at least four different isomers: all-trans-RA (atRA), 9-cis-RA, 13-cis-RA, and 9,13-dicis-RA, where atRA is considered to be the biologically active isomer, although 9-cis-RA and 13-cis-RA also have activity (Probable). Catalyzes the hydroxylation of atRA primarily at C-4 and C-18, thereby contributing to the regulation of atRA homeostasis and signaling (PubMed:10823918). Hydroxylation of atRA limits its biological activity and initiates a degradative process leading to its eventual elimination (PubMed:10823918, PubMed:22020119). Involved in the convertion of atRA to all-trans-4-oxo-RA. Can oxidize all-trans-13,14-dihydroretinoate (DRA) to metabolites which could include all-trans-4-oxo-DRA, all-trans-4-hydroxy-DRA, all-trans-5,8-epoxy-DRA, and all-trans-18-hydroxy-DRA (By similarity). Shows preference for the following substrates: atRA > 9-cis-RA > 13-cis-RA (PubMed:10823918, PubMed:22020119). Plays a central role in germ cell development: acts by degrading RAs in the developing testis, preventing STRA8 expression, thereby leading to delay of meiosis. Required for the maintenance of the undifferentiated state of male germ cells during embryonic development in Sertoli cells, inducing arrest in G0 phase of the cell cycle and preventing meiotic entry. Plays a role in skeletal development, both at the level of patterning and in the ossification of bone and the establishment of some synovial joints (PubMed:22019272). Essential for postnatal survival (By similarity)

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.