Molecular characteristics

NKX6-2 (NM_177400.2) is part of the homeobox gene family and acts as a transcription factor.

Both NKX6-2 homozygous and compound heterozygous have been implicated in disease. Whilst truncating mutations lead to loss-of-function, all reported missense mutations lead to disease by interfering with the homeobox domain of the gene likely affecting the DNA binding.

As this disorder has an autosomal recessive inheritance the parents and the offspring of an affected individual are obligate heterozygote carriers. Carriers are asymptomatic and do not develop the disease.