" /> SPG11 wt Allele - CISMeF





Preferred Label : SPG11 wt Allele;

NCIt synonyms : ALS5; Spatacsin Gene; CMT2X; Amyotrophic Lateral Sclerosis 5 Gene; FLJ21439; KIAA1840; SPG11 Vesicle Trafficking Associated, Spatacsin wt Allele; SPG11, Spatacsin Vesicle Trafficking Associated Gene; Spastic Paraplegia 11 (Autosomal Recessive) Gene;

NCIt definition : Human SPG11 wild-type allele is located in the vicinity of 15q21.1 and is approximately 109 kb in length. This allele, which encodes spatacsin protein, is involved in axo-dendritic vesicle transport. Mutations in the gene are associated with juvenile amyotrophic lateral sclerosis 5, axonal Charcot-Marie-Tooth disease type 2X and autosomal recessive spastic paraplegia 11.;

GenBank Accession Number : NM_001160227;

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01/06/2025


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