Gene table of ELOVL4 : ELOVL fatty acid elongase 4

Gene-disease associations table

Disease IDDisease nameSource of annotation with ELOVL4OMIM linkNumber of associated genesgenes
600110STARGARDT DISEASE 3ClinVar, OMIM link to OMIM 1ELOVL4
614457ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATIONClinVar, OMIM link to OMIM 1ELOVL4
PS164400SPINOCEREBELLAR ATAXIAClinVar, OMIM, HUMSAVAR link to OMIM 31ATXN10, ATXN2, SCYL1, PDYN, ELOVL5, PRKCG, TRPC3, ATXN8OS, NOP56, ATXN8, TBP, PPP2R2B, ELOVL4, PLEKHG4, ATXN7, AFG3L2, BEAN1, CACNA1A, ATXN1, TTBK2, KCND3, CACNA1G, TMEM240, ATXN3, KCNC3, SPTBN2, TGM6, CCDC88C, FGF14, ITPR1, EEF2

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Annotation of the gene ELOVL4

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST
Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
Fatty acid elongationhsa000628.18
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Triglyceride BiosynthesisR-HSA-751097.46
Fatty Acyl-CoA BiosynthesisR-HSA-751058.34
Synthesis of very long-chain fatty acyl-CoAsR-HSA-758768.66
MetabolismR-HSA-14307282.34
Fatty acid, triacylglycerol, and ketone body metabolismR-HSA-5357345.44
Metabolism of lipids and lipoproteinsR-HSA-5568333.79
Associated GO terms for Molecular function
GO termGO IDGO IC
G-protein coupled photoreceptor activityGO:00080207.34
G-protein coupled receptor activityGO:00049302.95
photoreceptor activityGO:00098816.97
signal transducer activityGO:00048712.28
catalytic activityGO:00038241.05
transferase activityGO:00167401.95
molecular transducer activityGO:00600892.32
transmembrane signaling receptor activityGO:00048882.57
receptor activityGO:00048722.32
protein bindingGO:00055150.46
signaling receptor activityGO:00380232.49
transmembrane receptor activityGO:00996002.53
bindingGO:00054880.18