gene 2,714 words KG: SPG35
Contents

SPG35 Gene

🧬 Gene Info
Gene SymbolSPG35
Full NameFA2H (Fatty Acid 2-Hydroxylase)
Chromosome16q23.3
Functionis a member of the fatty acid hydroxylase family and plays a vital role in maintaining myelin integrity in the central nervous system (CNS) [@myelin_lipids_2011].
Subcellular Localizations and enzymatic activities, which could explain the tissue-specific phenotype of FA2H-related disorders
Molecular Weight44 kDa
Amino Acids383 aa
Exons13
UniProt ID[Q8IWA4](https://www.uniprot.org/uniprotkb/Q8IWA4/entry)
GeneCardsSPG35
Human Protein AtlasSPG35
Isoform 1 (canonical)Full-length 383 amino acids, predominantly expressed in brain
Isoform 2Lacks exon 6, expressed in peripheral tissues
Isoform 3Alternative start site, truncated variant
Substrate specificityPrefers C24 and C26 fatty acids
Associated Diseasesneurodegeneration
DatabasesGeneCardsNCBI GeneHPASTRING

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