Cytochrome P450 26B1 is a protein that in humans is encoded by the CYP26B1 gene. [5][6] This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases that catalyze many reactions involved in drug metabolism and the synthesis of cholesterol, steroids and other lipids.

Mar 30, 2025 · CYP26B1 (Cytochrome P450 Family 26 Subfamily B Member 1) is a Protein Coding gene. Diseases associated with CYP26B1 include Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies and Lethal Occipital …

Sep 27, 2023 · CYP26B1 (located at 2p13.2, genomic coordinates: 72,129,238–72,147,862, GRCh38/hg38) encodes for the CYP26B1 enzyme which is important for the development and differentiation of the central nervous system (especially the hindbrain) and skeletal development, where it regulates patterning, bone ossification, and the establishment of specific ...

Feb 8, 2025 · CYP26B1-related disorder: expanding the ends of the spectrum through clinical and molecular evidence. A variant in CYP26B1 associated with esophageal squamous cell carcinoma risk by affecting retinoic acid metabolism. Familial monoallelic CYP26B1 truncating variant causes a syndromic craniosynostosis due to haploinsufficiency ?

The Cytochrome P450 (CYP) family 26 enzymes contribute to retinoic acid (RA) metabolism and homeostasis in humans, mammals and other chordates. The three CYP26 family enzymes, CYP26A1, CYP26B1 and CYP26C1 have all been shown to metabolize all-trans-retinoic acid (atRA) it's 9-cisRA and 13-cisRA isom …

Balanced levels of retinoic acid maintained by CYP26B1 are crucial for the lymphatic system. We identified that CYP26B1 could be involved in predisposition for lymphedema. We propose that CYP26B1 be further explored as a new candidate gene for genetic testing of …

Jan 4, 2025 · Clinical resource with information about CYP26B1, Biological insights from 108 schizophrenia-associated genetic loci., Lethal occipital encephalocele-skeletal dysplasia syndrome, and available tests. There are links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, PharmGKB and clinicaltrials.gov.

Feb 17, 2024 · Title: CYP26B1 and its implications in lymphangiogenesis: Literature review and study of rare variants in two families. This review highlights the current knowledge of structure-function of CYP26 enzymes and focuses on their role …

Feb 20, 2020 · Cyp26b1 is highly enriched in lung endothelial cells (ECs) throughout development. We find that loss of Cyp26b1 leads to reduction of alveolar type 1 cells, failure of alveolar inflation and early postnatal lethality in mouse.

In summary, this study identifies the first CYP26B1 polymorphism that alters CYP26B1 capacity to metabolize retinoic acid. CYP26B1 was expressed in macrophage-rich areas of human atherosclerotic lesions, induced by retinoic acid and increased in murine atherosclerosis.