spectrin alpha chain, non-erythrocytic 1 isoform X4 [Homo sapiens]

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Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia. [Genet Med. 2023]
Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia.
Morsy H, Benkirane M, Cali E, Rocca C, Zhelcheska K, Cipriani V, Galanaki E, Maroofian R, Efthymiou S, Murphy D, et al. Genet Med. 2023 Jan; 25(1):76-89. Epub 2022 Nov 4.
De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia. [Mov Disord. 2022]
De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia.
Van de Vondel L, De Winter J, Beijer D, Coarelli G, Wayand M, Palvadeau R, Pauly MG, Klein K, Rautenberg M, Guillot-Noël L, et al. Mov Disord. 2022 Jun; 37(6):1175-1186. Epub 2022 Feb 12.
SPTAN1 variants likely cause autosomal recessive complicated hereditary spastic paraplegia. [J Hum Genet. 2022]
SPTAN1 variants likely cause autosomal recessive complicated hereditary spastic paraplegia.
Xie F, Chen S, Liu P, Chen X, Luo W. J Hum Genet. 2022 Mar; 67(3):165-168. Epub 2021 Sep 16.

RefSeq genomic sequence
See the genomic reference sequence for the SPTAN1 gene (NG_027748.2).
RefSeq mRNA
See reference mRNA sequence for the SPTAN1 gene (XM_047423786.1).
RefSeq protein isoforms
See 47 reference sequence protein isoforms for the SPTAN1 gene.

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Protein