TSC1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human TSC1 wild-type allele is located in the vicinity of 9q34 and is approximately 53 kb in length. This allele, which encodes hamartin protein, may be involved in the mediation of vesicular transport and neuronal development. Aberrant expression or mutation of the gene is associated with tuberous sclerosis.

**Synonyms:** - KIAA0243 - LAM - TSC - TSC1 - Tuberous Sclerosis 1 wt Allele