CSF3R wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human CSF3R wild-type allele is located within 1p35-p34.3 and is approximately 17 kb in length. This allele, which encodes granulocyte colony-stimulating factor receptor protein, plays a role in the production, differentiation, and function of granulocytes. Mutations in this gene generate variant alleles that are a cause of Kostmann syndrome, or severe congenital neutropenia.

**Synonyms:** - CD114 - Colony Stimulating Factor 3 Receptor (Granulocyte) Gene - Colony Stimulating Factor 3 Receptor wt Allele - Colony-Stimulating Factor 3 Receptor, Granulocyte Gene - GCSF-R - GCSFR - SCN7