NCIt synonyms : ISQMR; SCA34; STGD2; Elongation of Very Long Chain Fatty Acids (FEN1/Elo2, SUR4/Elo3, Yeast)-Like 4 Gene; STGD3; ADMD; Elongation of Very Long Chain Fatty Acids-Like 4 Gene; Spinocerebellar Ataxia 34 Gene; Cancer/Testis Antigen 118 Gene; ELOVL Fatty Acid Elongase 4 wt Allele; CT118;
NCIt definition : Human ELOVL4 wild-type allele is located in the vicinity of 6q14.1 and is approximately
33 kb in length. This allele, which encodes very long chain fatty acid elongase 4
protein, is involved in fatty acid elongation. Mutations in the gene are associated
with spinocerebellar ataxia 34, Stargardt disease 3 and ichthyosis, spastic quadriplegia,
and impaired intellectual development.;