LMPD Database

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LMP004286

UniProt Annotations

Entry Information
Gene Namefatty acid 2-hydroxylase
Protein EntryFA2H_HUMAN
UniProt IDQ7L5A8
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q7L5A8-1; Sequence=Displayed; Name=2; IsoId=Q7L5A8-2; Sequence=VSP_056135; Note=No experimental confirmation available.;
CofactorName=Fe cation; Xref=ChEBI
DiseaseSpastic paraplegia 35, autosomal recessive (SPG35) [MIM
DomainThe histidine box domains may contain the active site and/or be involved in metal ion binding.
FunctionRequired for alpha-hydroxylation of free fatty acids and the formation of alpha-hydroxylated sphingolipids.
InductionUp-regulated during keratinocyte differentiation.
Sequence CautionSequence=AAC23496.1; Type=Erroneous gene model prediction; Evidence= ;
SimilarityBelongs to the sterol desaturase family. SCS7 subfamily.
SimilarityContains 1 cytochrome b5 heme-binding domain.
Subcellular LocationEndoplasmic reticulum membrane ; Multi-pass membrane protein . Microsome membrane ; Multi-pass membrane protein .
Tissue SpecificityDetected in differentiating cultured keratinocytes (at protein level). Detected in epidermis and cultured keratinocytes. Highly expressed in brain and colon. Detected at lower levels in testis, prostate, pancreas and kidney.