SERAC1

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External IDs	GeneCards: [1]
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View/Edit Human

Serine active site containing 1 is a protein in humans that is encoded by the SERAC1 gene.^[1]

Clinical relevance

Mutations in this gene have been associated to impairment of both mitochondrial function and intracellular cholesterol trafficking.^[2] A mutation in this gene has been found in a patient suffering from 3-methylglutaconic aciduria.^[3]

Mutations in SERAC1 are associated to MEGDEL syndrome .^[4]

References

↑ "Entrez Gene: Serine active site containing 1". Retrieved 2012-07-24.
↑ Wortmann SB, Vaz FM, Gardeitchik T, Vissers LE, Renkema GH, Schuurs-Hoeijmakers JH, Kulik W, Lammens M, Christin C, Kluijtmans LA, Rodenburg RJ, Nijtmans LG, Grünewald A, Klein C, Gerhold JM, Kozicz T, van Hasselt PM, Harakalova M, Kloosterman W, Barić I, Pronicka E, Ucar SK, Naess K, Singhal KK, Krumina Z, Gilissen C, van Bokhoven H, Veltman JA, Smeitink JA, Lefeber DJ, Spelbrink JN, Wevers RA, Morava E, de Brouwer AP (Jul 2012). "Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness". Nature Genetics. 44 (7): 797–802. doi:10.1038/ng.2325. PMID 22683713.
↑ Tort F, García-Silva MT, Ferrer-Cortès X, Navarro-Sastre A, Garcia-Villoria J, Coll MJ, Vidal E, Jiménez-Almazán J, Dopazo J, Briones P, Elpeleg O, Ribes A (2013). "Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria". Mol. Genet. Metab. 110 (1–2): 73–7. doi:10.1016/j.ymgme.2013.04.021. PMID 23707711.
↑ Lumish HS, Yang Y, Xia F, Wilson A, Chung WK (2014). "The Expanding MEGDEL Phenotype: Optic Nerve Atrophy, Microcephaly, and Myoclonic Epilepsy in a Child with SERAC1 Mutations". JIMD Reports. 16: 75–9. doi:10.1007/8904_2014_322. PMC 4221303. PMID 24997715.

This article on a gene on human chromosome 6 is a stub. You can help Wikipedia by expanding it.

[entrez-1] "Entrez Gene: Serine active site containing 1". Retrieved 2012-07-24.

[pmid22683713-2] Wortmann SB, Vaz FM, Gardeitchik T, Vissers LE, Renkema GH, Schuurs-Hoeijmakers JH, Kulik W, Lammens M, Christin C, Kluijtmans LA, Rodenburg RJ, Nijtmans LG, Grünewald A, Klein C, Gerhold JM, Kozicz T, van Hasselt PM, Harakalova M, Kloosterman W, Barić I, Pronicka E, Ucar SK, Naess K, Singhal KK, Krumina Z, Gilissen C, van Bokhoven H, Veltman JA, Smeitink JA, Lefeber DJ, Spelbrink JN, Wevers RA, Morava E, de Brouwer AP (Jul 2012). "Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness". Nature Genetics. 44 (7): 797–802. doi:10.1038/ng.2325. PMID 22683713.

[pmid23707711-3] Tort F, García-Silva MT, Ferrer-Cortès X, Navarro-Sastre A, Garcia-Villoria J, Coll MJ, Vidal E, Jiménez-Almazán J, Dopazo J, Briones P, Elpeleg O, Ribes A (2013). "Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria". Mol. Genet. Metab. 110 (1–2): 73–7. doi:10.1016/j.ymgme.2013.04.021. PMID 23707711.

[4] Lumish HS, Yang Y, Xia F, Wilson A, Chung WK (2014). "The Expanding MEGDEL Phenotype: Optic Nerve Atrophy, Microcephaly, and Myoclonic Epilepsy in a Child with SERAC1 Mutations". JIMD Reports. 16: 75–9. doi:10.1007/8904_2014_322. PMC 4221303. PMID 24997715.

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SERAC1

Clinical relevance

References

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