SPG11 wt Allele

**Semantic type:** Gene or Genome

**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.

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