4qgk

Structural highlights

Disease

[AL3A2_HUMAN] Sjogren-Larsson syndrome. The disease is caused by mutations affecting the gene represented in this entry.^{[1] [2] [3] [4] [5]}

Function

[AL3A2_HUMAN] Catalyzes the oxidation of long-chain aliphatic aldehydes to fatty acids. Active on a variety of saturated and unsaturated aliphatic aldehydes between 6 and 24 carbons in length. Responsible for conversion of the sphingosine 1-phosphate (S1P) degradation product hexadecenal to hexadecenoic acid.^[6]

See Also

• Aldehyde dehydrogenase

References

1. ↑ De Laurenzi V, Rogers GR, Hamrock DJ, Marekov LN, Steinert PM, Compton JG, Markova N, Rizzo WB. Sjogren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene. Nat Genet. 1996 Jan;12(1):52-7. PMID:8528251 doi:http://dx.doi.org/10.1038/ng0196-52
2. ↑ Sillen A, Jagell S, Wadelius C. A missense mutation in the FALDH gene identified in Sjogren-Larsson syndrome patients originating from the northern part of Sweden. Hum Genet. 1997 Aug;100(2):201-3. PMID:9254849
3. ↑ Sillen A, Anton-Lamprecht I, Braun-Quentin C, Kraus CS, Sayli BS, Ayuso C, Jagell S, Kuster W, Wadelius C. Spectrum of mutations and sequence variants in the FALDH gene in patients with Sjogren-Larsson syndrome. Hum Mutat. 1998;12(6):377-84. PMID:9829906 doi:<377::AID-HUMU3>3.0.CO;2-I http://dx.doi.org/10.1002/(SICI)1098-1004(1998)12:6<377::AID-HUMU3>3.0.CO;2-I
4. ↑ Rizzo WB, Carney G, Lin Z. The molecular basis of Sjogren-Larsson syndrome: mutation analysis of the fatty aldehyde dehydrogenase gene. Am J Hum Genet. 1999 Dec;65(6):1547-60. PMID:10577908 doi:http://dx.doi.org/S0002-9297(07)63574-5
5. ↑ Aoki N, Suzuki H, Ito K, Ito M. A novel point mutation of the FALDH gene in a Japanese family with Sjogren-Larsson syndrome. J Invest Dermatol. 2000 May;114(5):1065-6. PMID:10792573 doi:http://dx.doi.org/10.1046/j.1523-1747.2000.00960-5.x
6. ↑ Nakahara K, Ohkuni A, Kitamura T, Abe K, Naganuma T, Ohno Y, Zoeller RA, Kihara A. The Sjogren-Larsson syndrome gene encodes a hexadecenal dehydrogenase of the sphingosine 1-phosphate degradation pathway. Mol Cell. 2012 May 25;46(4):461-71. doi: 10.1016/j.molcel.2012.04.033. PMID:22633490 doi:http://dx.doi.org/10.1016/j.molcel.2012.04.033