KEGG   VARIANT: 6785v1
Entry
6785v1                      Variant                                
Name
ELOVL4 mutation
Type
Loss of function
Gene
ELOVL4  very long chain fatty acid elongase 4 [KO:K10249]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 605512
Network
nt06545  Cornified envelope formation
Disease
H00063  Spinocerebellar ataxia (SCA)
H00819  Stargardt disease
H02935  Ichthyosis, spastic quadriplegia, and impaired intellectual development
Reference
  Authors
Aldahmesh MA, Mohamed JY, Alkuraya HS, Verma IC, Puri RD, Alaiya AA, Rizzo WB, Alkuraya FS
  Title
Recessive mutations in ELOVL4 cause ichthyosis, intellectual disability, and spastic quadriplegia.
  Journal
Am J Hum Genet 89:745-50 (2011)
DOI:10.1016/j.ajhg.2011.10.011
Reference
  Authors
Bernstein PS, Tammur J, Singh N, Hutchinson A, Dixon M, Pappas CM, Zabriskie NA, Zhang K, Petrukhin K, Leppert M, Allikmets R
  Title
Diverse macular dystrophy phenotype caused by a novel complex mutation in the ELOVL4 gene.
  Journal
Invest Ophthalmol Vis Sci 42:3331-6 (2001)
Reference
  Authors
Cadieux-Dion M, Turcotte-Gauthier M, Noreau A, Martin C, Meloche C, Gravel M, Drouin CA, Rouleau GA, Nguyen DK, Cossette P
  Title
Expanding the clinical phenotype associated with ELOVL4 mutation: study of a large French-Canadian family with autosomal dominant spinocerebellar ataxia and erythrokeratodermia.
  Journal
JAMA Neurol 71:470-5 (2014)
DOI:10.1001/jamaneurol.2013.6337
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