spectrin alpha chain, non-erythrocytic 1 isoform 1 [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 (NM_001130438.3).

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NP_001123910 [Domain Mapping of Disease Mut...]
NP_001123910
Domain Mapping of Disease Mutations
Ensembl [Ensembl]
Ensembl
GlyGen glycoinformatics resource [GlyGen glycoinformatics resou...]
GlyGen glycoinformatics resource
OncoMX cancer biomarker resource [OncoMX cancer biomarker resou...]
OncoMX cancer biomarker resource
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
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reagents [ExactAntigen/Labome]
reagents
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Elassoma okefenokee isolate EokeA voucher YFTC 11471 SH3 and PX3 domain-containi...
Elassoma okefenokee isolate EokeA voucher YFTC 11471 SH3 and PX3 domain-containing 3-like protein (SH3PX3) gene, partial cds
gi|531996475|gb|KF141461.1|

Nucleotide
trace amine-associated receptor 5 [Mus musculus]
trace amine-associated receptor 5 [Mus musculus]
gi|57529083|ref|NP_001009574.1|

Protein
Elassoma okefenokee isolate EokeA zic family member 1 (zic1) gene, partial cds
Elassoma okefenokee isolate EokeA zic family member 1 (zic1) gene, partial cds
gi|380751284|gb|JQ353155.1|

Nucleotide

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