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Results for the Protein: Q9GZR5
20137966

ELOV4_HUMAN RecName: Full=Elongation of very long chain fatty acids protein 4; AltName: Full=3-keto acyl-CoA synthase ELOVL4; AltName: Full=ELOVL fatty acid elongase 4; Short=ELOVL FA elongase 4; AltName: Full=Very-long-chain 3-oxoacyl-CoA synthase 4

Known Diseases associated with this Protein:
  ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION
  STARGARDT DISEASE 3
2
2
2
1
1
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ELO - pfam01151


Swiss-Prot Protein: Q9GZR5
Identical to: NP_073563
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
ELOpfam011512.1e-11541278

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_017043Polymorphismp.ILE267THRN/A
dbSNPrs3812153 Polymorphismp.MET299VALN/A
OMIM605512.0005 Diseasep.ARG216TERICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION
OMIM605512.0004 Diseasep.TYR270TERSTARGARDT DISEASE 3



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