Aliases for ENOSF1 Gene
This gene can encode a mitochondrial enzyme that is thought to convert L-fuconate to 2-keto-3-deoxy-L-fuconate. This locus was originally identified as the source of antisense RNAs of the adjacent thymidylate synthase gene. Splice variants at this locus may contain an alternate 3' exon that is complementary to the 3'UTR and terminal intron of the thymidylate synthase (TS) RNA and may downregulate TS expression. [provided by RefSeq, Aug 2017]
GeneCards Summary for ENOSF1 Gene
ENOSF1 (Enolase Superfamily Member 1) is a Protein Coding gene. Diseases associated with ENOSF1 include Pompholyx and Rothmund-Thomson Syndrome, Type 2. Among its related pathways are Metabolism and Fructose and mannose metabolism. Gene Ontology (GO) annotations related to this gene include magnesium ion binding and L-fuconate dehydratase activity.
UniProtKB/Swiss-Prot Summary for ENOSF1 Gene
Plays a role in the catabolism of L-fucose, a sugar that is part of the carbohydrates that are attached to cellular glycoproteins. Catalyzes the dehydration of L-fuconate to 2-keto-3-deoxy-L-fuconate by the abstraction of the 2-proton to generate an enediolate intermediate that is stabilized by the magnesium ion (PubMed:24697329).