C9orf72 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human C9orf72 wild-type allele is located in the vicinity of 9p21.2 and is approximately 27 kb in length. This allele, which encodes guanine nucleotide exchange factor C9orf72 protein, is involved in guanyl-nucleotide exchange activity that mediates cellular stress responses and regulates autophagy. An expanded GGGGCC hexanucleotide repeat in the non-coding region of the C9orf72 gene is associated with amyotrophic lateral sclerosis and frontotemporal dementia.

**Synonyms:** - ALSFTD - C9orf72-SMCR8 Complex Subunit wt Allele - Chromosome 9 Open Reading Frame 72 Gene - DENND9 - DENNL72 - FTDALS - Guanine Nucleotide Exchange C9orf72 Gene - MGC23980 - RP11-27J8.2