NKX2-5 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human NKX2-5 wild-type allele is located in the vicinity of 5q34 and is approximately 3 kb in length. This allele, which encodes homeobox protein Nkx-2.5, is involved in both heart development and the modulation of transcription. Mutation of the gene is associated with atrial septal defect type 7, tetralogy of Fallot, and congenital hypothyroidism non-goitrous type 5.

**Synonyms:** - CHNG5 - CSX - CSX1 - FLJ52202 - FLJ97166 - FLJ97195 - FLJ97197 - FLJ99536 - HLHS2 - NK2 Homeobox 5 wt Allele - NKX2.5 - NKX2E - NKX4-1 - Tinman Paralog (Drosophila) Gene - VSD3