Details for Gene GFI1

GENE NAME GFI1
CHROMOSOME 1
ENSEMBL ID ENSG00000162676
ENTREZ ID 2672
UNIPROT ACCESSION NUMBER Q99684
GO MOLECULAR FUNCTION protein binding; transcription cis-regulatory region binding; DNA binding; DNA-binding transcription repressor activity, RNA polymerase II-specific; metal ion binding
ESSENTIAL IN MOUSE Non-essential
PATHWAYS R-HSA-9616222; R-HSA-1266738
1 combination linked to GFI1 OLI831
1 variant linked to GFI1 GFI1:c.1145A>G, p.Asn382Ser
2 diseases linked to GFI1 Severe congenital neutropenia; Non-syndromic genetic deafness

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