RecName: Full=Lipopolysaccharide-induced tumor necrosis factor-alpha f - Protein

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Identification and clinical characterization of Charcot-Marie-Tooth disease type 1C patients with LITAF p.G112S mutation. [Genes Genomics. 2022]
Identification and clinical characterization of Charcot-Marie-Tooth disease type 1C patients with LITAF p.G112S mutation.
Park J, Kim HS, Kwon HM, Kim J, Nam SH, Jung NY, Lee AJ, Jung YH, Kim SB, Chung KW, et al. Genes Genomics. 2022 Aug; 44(8):1007-1016. Epub 2022 May 24.
Atypical presentation of Charcot-Marie-Tooth disease type 1C with a new mutation: a case report. [BMC Neurol. 2021]
Atypical presentation of Charcot-Marie-Tooth disease type 1C with a new mutation: a case report.
Turčanová Koprušáková M, Grofik M, Kantorová E, Jungová P, Chandoga J, Kolisek M, Valkovič P, Škorvánek M, Ploski R, Kurča E, et al. BMC Neurol. 2021 Jul 27; 21(1):293. Epub 2021 Jul 27.
Phenotypic spectrum of Charcot-Marie-Tooth disease due to LITAF/SIMPLE mutations: a study of 18 patients. [Eur J Neurol. 2017]
Phenotypic spectrum of Charcot-Marie-Tooth disease due to LITAF/SIMPLE mutations: a study of 18 patients.
Guimarães-Costa R, Iancu Ferfoglia R, Leonard-Louis S, Ziegler F, Magy L, Fournier E, Dubourg O, Bouche P, Maisonobe T, Lacour A, et al. Eur J Neurol. 2017 Mar; 24(3):530-538.

RefSeq genomic sequence
See the genomic reference sequence for the LITAF gene (NG_009008.1).
RefSeq protein isoforms
See 17 reference sequence protein isoforms for the LITAF gene.

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Q99732 [Domain Mapping of Disease Mut...]
Q99732
Domain Mapping of Disease Mutations
Transcript/Protein Information [PANTHER Classification System]
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reagents [ExactAntigen/Labome]
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Protein