SBF1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human SBF1 wild-type allele is located in the vicinity of 22q13.33 and is approximately 41 kb in length. This allele, which encodes myotubularin-related protein 5, plays a role in guanine nucleotide exchange and the regulation of phosphoinositol phosphatase activity. Mutation of the gene is associated with Charcot-Marie-Tooth disease type 4B3.

**Synonyms:** - CMT4B3 - DENN/MADD Domain Containing 7A Gene - DENND7A - MTMR5 - Myotubularin Related 5 Gene - SET Binding Factor 1 wt Allele