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ELOVL4 - ELOVL fatty acid elongase 4
- Synonym(s) : cancer/testis antigen 118, CT118
- Previous symbols and names : 'elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4', Elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4, SCA34, STGD2, STGD3, sca34, spinocerebellar ataxia 34
- Type : gene with protein product
- Chromosomal location : 6q14.1
- OMIM: 605512
- HGNC: 14415
- UniProtKB: Q9GZR5
- Genatlas: ELOVL4
- GenCC: ELOVL4
- Ensembl: ENSG00000118402
- IUPHAR-DB: -
- Reactome: Q9GZR5
- LOVD: ELOVL4
Diseases list
- Disease-causing germline mutation(s) in Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome
ORPHA:352333 
- Disease-causing germline mutation(s) in Spinocerebellar ataxia type 34
ORPHA:1955 - Disease-causing germline mutation(s) in Stargardt disease
ORPHA:827
: AssessedAdditional information
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