NOTCH2NLC wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human NOTCH2NLC wild-type allele is located in the vicinity of 1q21.2 and is approximately 81 kb in length. This allele, which encodes Notch homolog 2 N-terminal-like protein C, is involved in neural progenitor proliferation, cerebral cortex development and promotion of Notch signaling. Heterozygous trinucleotide repeat expansions in the 5-prime untranslated region (UTR) of the gene are associated with neuronal intranuclear inclusion disease, oculopharyngodistal myopathy 3 and hereditary essential tremor 6.

**Synonyms:** - ETM6 - N2N - NIID - NOTCH2NL - Notch 2 N-Terminal Like C wt Allele - Notch 2 N-Terminal-Like C Gene - OPDM3