Alt. symbols: ZNF163 | GFI1A | GFI-1

Approved name: growth factor independent 1 transcriptional repressor
Alt. names: growth factor independent 1

Location: 1p22.1: 92473043 - 92486925 (-)
Gene type: protein_coding, 9 transcripts.

Scores: LoFtool: 0.557000 | pLI: 0.02962856 | LOEUF: 0.561

HGNC: 4237

NCBI: 2672, RefSeq: NG_007874.1

Ensembl: ENSG00000162676.13

LRG_63 | Status: public

OMIM: 600871

Expression | ProteinAtlas

Monoallelic mutations in this gene have been described to cause an autosomal dominant form of severe congenital neutropenia (SCN), namely SCN2 [MIM:613107], which is caused by the missense mutation: p.Asn382Ser (Person et al. 2003, Armistead et al. 2010). However, a milder form, known as nonimmune chronic idiopathic neutropenia of adults [MIM:607847] has been reported (Person et al. 2003). The patient carried the missense mutation p.Lys403Arg and had been found to be neutropenic for 10 years. Af ter identification of the mutation, she persistently had low neutrophil count and elevated monocytes. Both mutations alter important residues from the fifth (p.N382S) and sixth (p.K403R) zinc-finger domains of the protein. [Load More]