TBC1D7 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human TBC1D7 wild-type allele is located in the vicinity of 6p24.1 and is approximately 62 kb in length. This allele, which encodes TBC1 domain family member 7 protein, is involved in GTPase-activating protein activity and the subsequent inhibition of the mTORC1-dependent signaling cascade. Mutation of the gene is associated with autosomal recessive macrocephaly/megalencephaly syndrome.

**Synonyms:** - FLJ32666 - HSPC239 - MGCPH - PIG51 - TBC1 Domain Family Member 7 wt Allele - TBC1 Domain Family, Member 7 Gene - TBC7 - TS Complex Subunit 3 Gene - dJ257A7.3