gene 1,954 words KG: CYP27B1 2026-03-28
kind:genesection:genesstate:published
Contents

CYP27B1 — Vitamin D 1-alpha Hydroxylase

🧬 Gene Info
Gene SymbolCYP27B1
Full NameVitamin D 1-alpha Hydroxylase (CYP27B1)
Chromosome12q14.1
Protein TypeEnzyme
Functionis a mitochondrial cytochrome P450 enzyme with distinct structural features
Primary Expressiona tissue-specific manner:
Molecular Weight56 kDa
Amino Acids508 aa
Exons9
UniProt ID[Q9H3J8](https://www.uniprot.org/uniprot/Q9H3J8)
Ensembl IDENSG00000128604
OMIM171080
GeneCardsCYP27B1
Human Protein AtlasCYP27B1
Exon 1Encodes the 5' UTR and N-terminal mitochondrial targeting sequence
Associated Diseasesneurodegeneration
KG Connections8 knowledge graph edges
DatabasesGeneCardsNCBI GeneHPASTRING

Knowledge Graph