FERM domain containing 5, isoform CRA_c [Homo sapiens]

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De novo FRMD5 Missense Variants in Patients with Childhood-Onset Ataxia, Prominent Nystagmus, and Seizures. [Mov Disord. 2024]
De novo FRMD5 Missense Variants in Patients with Childhood-Onset Ataxia, Prominent Nystagmus, and Seizures.
Keller Sarmiento IJ, Bustos BI, Blackburn J, Hac NEF, Ruzhnikov M, Monroe M, Levy RJ, Kinsley L, Li M, Silani V, et al. Mov Disord. 2024 Jul; 39(7):1231-1236. Epub 2024 Apr 4.
Analysis of the Role of FRMD5 in the Biology of Papillary Thyroid Carcinoma. [Int J Mol Sci. 2021]
Analysis of the Role of FRMD5 in the Biology of Papillary Thyroid Carcinoma.
Gaweł AM, Ratajczak M, Gajda E, Grzanka M, Paziewska A, Cieślicka M, Kulecka M, Oczko-Wojciechowska M, Godlewska M. Int J Mol Sci. 2021 Jun 23; 22(13). Epub 2021 Jun 23.
De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement. [Am J Hum Genet. 2022]
De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement.
Lu S, Ma M, Mao X, Bacino CA, Jankovic J, Sutton VR, Bartley JA, Wang X, Rosenfeld JA, Beleza-Meireles A, et al. Am J Hum Genet. 2022 Oct 6; 109(10):1932-1943.

RefSeq protein isoforms
See 13 reference sequence protein isoforms for the FRMD5 gene.

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Transcript/Protein Information [PANTHER Classification System]
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reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome

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Protein