ELP1 Gene

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Li, V. ELP1 Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/5336 (accessed on 21 September 2026).

Li V. ELP1 Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/5336. Accessed September 21, 2026.

Li, Vivi. "ELP1 Gene" Encyclopedia, https://encyclopedia.pub/entry/5336 (accessed September 21, 2026).

Li, V. (2020, December 24). ELP1 Gene. In Encyclopedia. https://encyclopedia.pub/entry/5336

Li, Vivi. "ELP1 Gene." Encyclopedia. Web. 24 December, 2020.

ELP1 Gene

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/elp1

Elongator complex protein 1: The ELP1 gene provides instructions for making a protein called elongator complex protein 1 (ELP1).

genes

References

Anderson SL, Coli R, Daly IW, Kichula EA, Rork MJ, Volpi SA, Ekstein J, Rubin BY. Familial dysautonomia is caused by mutations of the IKAP gene. Am J HumGenet. 2001 Mar;68(3):753-8.
Axelrod FB. Familial dysautonomia. Muscle Nerve. 2004 Mar;29(3):352-63.Review.
Close P, Hawkes N, Cornez I, Creppe C, Lambert CA, Rogister B, Siebenlist U,Merville MP, Slaugenhaupt SA, Bours V, Svejstrup JQ, Chariot A. Transcriptionimpairment and cell migration defects in elongator-depleted cells: implicationfor familial dysautonomia. Mol Cell. 2006 May 19;22(4):521-31.
Cuajungco MP, Leyne M, Mull J, Gill SP, Lu W, Zagzag D, Axelrod FB, Maayan C, Gusella JF, Slaugenhaupt SA. Tissue-specific reduction in splicing efficiency of IKBKAP due to the major mutation associated with familial dysautonomia. Am J Hum Genet. 2003 Mar;72(3):749-58.
Ibrahim EC, Hims MM, Shomron N, Burge CB, Slaugenhaupt SA, Reed R. Weakdefinition of IKBKAP exon 20 leads to aberrant splicing in familial dysautonomia.Hum Mutat. 2007 Jan;28(1):41-53.
Leyne M, Mull J, Gill SP, Cuajungco MP, Oddoux C, Blumenfeld A, Maayan C,Gusella JF, Axelrod FB, Slaugenhaupt SA. Identification of the first non-Jewishmutation in familial Dysautonomia. Am J Med Genet A. 2003 May 1;118A(4):305-8.
Slaugenhaupt SA, Blumenfeld A, Gill SP, Leyne M, Mull J, Cuajungco MP, LiebertCB, Chadwick B, Idelson M, Reznik L, Robbins C, Makalowska I, Brownstein M,Krappmann D, Scheidereit C, Maayan C, Axelrod FB, Gusella JF. Tissue-specificexpression of a splicing mutation in the IKBKAP gene causes familialdysautonomia. Am J Hum Genet. 2001 Mar;68(3):598-605.
Slaugenhaupt SA, Gusella JF. Familial dysautonomia. Curr Opin Genet Dev. 2002 Jun;12(3):307-11. Review.

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Subjects: Genetics & Heredity

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Update Date: 24 Dec 2020

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