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FLASH GENE
Symbol CYP26B1 contributors: mct - updated : 16-11-2014
HGNC name cytochrome P450, family 26, subfamily B, polypeptide 1
HGNC id 20581
Location 2p13.2      Physical location : 72.356.366 - 72.374.963
Synonym name cytochrome P450 retinoid metabolizing protein
Synonym symbol(s) CYP26A2, P450RAI-2, DKFZp686G0638, MGC129613
DNA
TYPE functioning gene
STRUCTURE 118.60 kb     6 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
6 - 4534 - 512 - 2000 10823918
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Nervousbrain    
Skeletonaxial skeleton     Homo sapiens
cells
SystemCellPubmedSpeciesStageRna symbol
Skeletonosteoblast Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
Homologene
FAMILY cytochrome P450 superfamily
CATEGORY enzyme , transport carrier
SUBCELLULAR LOCALIZATION     intracellular
intracellular,cytoplasm,organelle,membrane
intracellular,cytoplasm,organelle,endoplasmic reticulum
intracellular,cytoplasm,cytosolic,microsome
basic FUNCTION
  • involved in the specific inactivation of all-trans-retinoic acid to hydroxylated forms, such as 4-oxo-, 4-OH-, and 18-OH-all-trans-retinoic acid
  • maintains low levels of RA in the developing testes that blocks entry into meiosis and acts as a survival factor to prevent apoptosis of male germ cells
  • with retinoic acid are critical regulators of osteogenesis in the axial skeleton
  • have a role in determining the cellular exposure to RA by inactivating RA in cells that do not need RA
  • in Sertoli cells acts as a masculinizing factor to arrest male germ cells in the G0 phase of the cell cycle and prevents them from entering meiosis, and thus is essential for the maintenance of the undifferentiated state of male germ cells during embryonic development
  • CYP26B1 and CYP26A1 are regulated by different nuclear receptors, resulting in tissue-specific expression patterns
  • plays a major role in the regulation of all-trans-retinoic acid metabolism and signaling in human aortic smooth muscle cells
  • P450 cytochrome enzyme that degrades retinoic acid (RA)
  • potentially regulated by activin, and involved in the control of granulosa cell proliferation
  • role for CYP26B1 in regulating RA-dependent signals in activated T cells but not during TGFB-dependent differentiation to Foxp3+ regulatory T cells
  • might establish and maintain synovial joint patency by restricting RA-mediated stimulation of chondrogenesis at borders of cartilaginous elements
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS electron transport
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • CYP26B1 suppresses two distinct genetic programs induced by RA: a STRA8-dependent meiotic pathway, and a STRA8-independent mitotic pathway
  • cell & other
    REGULATION
    induced by retinoic acid.
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    Homologene
    FAMILY
    CATEGORY
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,cytosolic,microsome
    basic FUNCTION involved in the specific inactivation of all-trans-retinoic acid to hydroxylated forms, such as 4-oxo-, 4-OH-, and 18-OH-all-trans-retinoic acid.
    CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    induced by retinoic acid.
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    null and hypomorphic mutations leading to skeletal and craniofacial anomalies, including fusions of long bones, calvarial bone hypoplasia, and craniosynostosis
    constitutional       loss of function
    deficiency in CYP26B1 action particularly impacts skeletal development, both at the level of patterning and in the ossification of bone and the establishment of some synovial joints
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • at embryonic day (E) 18.5 Cyp26b1(-/-) animals exhibit a truncated mandible, abnormal tooth buds, reduced ossification of calvaria, and are missing structures of the maxilla and nasal process
  • null and hypomorphic zebrafish cyp26b1 mutants, named dolphin (dol) and stocksteif (sst), display deficiencies in midline cartilaginous structures and hypermineralized facial and axial bones