UBA1 Gene Mutation

**Semantic type:** Cell or Molecular Dysfunction

**Definition:** A change in the nucleotide sequence of the UBA1 gene.

**Synonyms:** - A1S9T Gene Mutation - CFAP124 Gene Mutation - GXP1 Gene Mutation - POC20 Gene Mutation - UBA1A Gene Mutation - UBE1 Gene Mutation - UBE1X Gene Mutation - Ubiquitin Like Modifier Activating Enzyme 1 Gene Mutation