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Gene Review:

Elovl4 - elongation of very long chain fatty acids...

Mus musculus

Synonyms: 3-keto acyl-CoA synthase Elovl4, ELOVL FA elongase 4, ELOVL fatty acid elongase 4, Elongation of very long chain fatty acids protein 4, Very-long-chain 3-oxoacyl-CoA synthase 4

Zhang, X.M. et al., Raz-Prag, D. et al., Vasireddy, V. et al.

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Disease relevance of Elovl4

This study was undertaken to characterize a mouse model with a targeted deletion of Elovl4 and to explore the role of this gene in retinal/macular degeneration [1].

High impact information on Elovl4

Elovl4 5-bp-Deletion Knock-in Mice Develop Progressive Photoreceptor Degeneration [2].
However, Elovl4 is predominantly expressed in the retinal ganglion cells at P1-P3, followed by predominant expression in the outer nuclear layer at P7, with its final expression enriched in inner segments of photoreceptors [3].
Expression of Elovl4 in mouse retina begins at E15 during embryogenesis and persists in postnatal stages [3].

Analytical, diagnostic and therapeutic context of Elovl4

CONCLUSIONS: The detailed characterization of this animal model provides the first in vivo evidence that Elovl4 haploinsufficiency is not the underlying key disease mechanism in STGD3 [1].
In situ hybridizations using murine Elovl4 probes were performed on frozen sections of mouse eyes [3].

References

Haploinsufficiency is not the key mechanism of pathogenesis in a heterozygous Elovl4 knockout mouse model of STGD3 disease. Raz-Prag, D., Ayyagari, R., Fariss, R.N., Mandal, M.N., Vasireddy, V., Majchrzak, S., Webber, A.L., Bush, R.A., Salem, N., Petrukhin, K., Sieving, P.A. Invest. Ophthalmol. Vis. Sci. (2006) [Pubmed]
Elovl4 5-bp-Deletion Knock-in Mice Develop Progressive Photoreceptor Degeneration. Vasireddy, V., Jablonski, M.M., Mandal, M.N., Raz-Prag, D., Wang, X.F., Nizol, L., Iannaccone, A., Musch, D.C., Bush, R.A., Salem, N., Sieving, P.A., Ayyagari, R. Invest. Ophthalmol. Vis. Sci. (2006) [Pubmed]
Elovl4 mRNA distribution in the developing mouse retina and phylogenetic conservation of Elovl4 genes. Zhang, X.M., Yang, Z., Karan, G., Hashimoto, T., Baehr, W., Yang, X.J., Zhang, K. Mol. Vis. (2003) [Pubmed]

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AgaP_AGAP008780	Anopheles gambiae str. PEST
ELOVL4	Bos taurus
ELOVL4	Canis lupus familiaris
elovl4a	Danio rerio
elovl4b	Danio rerio
CG5278	Drosophila melanogaster
ELOVL4	Gallus gallus
ELOVL4	Homo sapiens
ELOVL4	Macaca mulatta
ELOVL4	Pan troglodytes
Elovl4	Rattus norvegicus
elovl4	Xenopus (Silurana) tropicalis

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