ELP1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human ELP1 wild-type allele is located in the vicinity of 9q31.3 and is approximately 67 kb in length. This allele, which encodes elongator complex protein 1, plays a role in the modification of tRNA. Mutation of the gene is associated with familial dysautonomia and predisposition for medulloblastoma.

**Synonyms:** - DYS - Dysautonomia (Riley-Day Syndrome, Hereditary Sensory Autonomic Neuropathy Type III) Gene - ELP1, Yeast, Homolog of Gene - Elongator Acetyltransferase Complex Subunit 1 wt Allele - Elongator Acetyltransferase Complex, Subunit 1 Gene - FD - IKAP - IKBKAP - IKI3 - Inhibitor of Kappa Light Polypeptide Gene Enhancer In B-Cells, Kinase Complex-Associated Protein Gene - TOT1