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GENE AND PROTEIN SUMMARY

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Gene name

ELOVL4

Description

ELOVL fatty acid elongase 4

Protein class

Enzymes, Mapped to UniProt SWISS-PROT, Potential transmembrane proteins

Protein evidence

Medium

Entrez gene summary

This gene encodes a membrane-bound protein which is a member of the ELO family, proteins which participate in the biosynthesis of fatty acids. Consistent with the expression of the encoded protein in photoreceptor cells of the retina, mutations and small deletions in this gene are associated with Stargardt-like macular dystrophy (STGD3) and autosomal dominant Stargardt-like macular dystrophy (ADMD), also referred to as autosomal dominant atrophic macular degeneration. [provided by RefSeq, Jul 2008]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

1 in total
1 with predicted TM region
0 with predicted signal peptide

SUBCELLULAR LOCATION SUMMARY

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Pending subcellular analysis

NORMAL TISSUE & ORGAN SUMMARY

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Pending normal tissue analysis

CANCER TISSUE SUMMARY

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Pending cancer tissue analysis

CELL LINE SUMMARY

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RNA evidence

Medium
 

Cell line

Cell origin

RNA abundance

IH staining

IF intensity

A-431 Skin Not detected

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-

A-549 Lung Low

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CACO-2 Colon Low

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HEK 293 Embryonal kidney Medium

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-

HeLa Cervix Low

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Hep-G2 Liver Low

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MCF-7 Pleural effusion Low

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PC-3 Bone marrow Low

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RT-4 Urinary bladder Not detected

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U-2 OS Bone Low

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U-251 MG Brain Low

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ANTIBODY SUMMARY

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Pending antibodies