IKZF3 Chromosome 17

IKAROS family zinc finger 3
1 variant 1 Health Risk

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What This Gene Does
This gene encodes a member of the Ikaros family of zinc-finger proteins. Three members of this protein family (Ikaros, Aiolos and Helios) are hematopoietic-specific transcription factors involved in the regulation of lymphocyte development. This gene product is a transcription factor that is important in the regulation of B lymphocyte proliferation and differentiation. Both Ikaros and Aiolos can participate in chromatin remodeling. Regulation of gene expression in B lymphocytes by Aiolos is complex as it appears to require the sequential formation of Ikaros homodimers, Ikaros/Aiolos heterodimers, and Aiolos homodimers. Several alternative transcripts encoding different isoforms have been described, as well as some non-protein coding variants. [provided by RefSeq, Apr 2012]
Gene Info
Gene Group
Zinc fingers C2H2-type
Locus Type
gene with protein product
Location
17q12-q21.1
Ensembl
ENSG00000161405
Associated Conditions (1)
Immunodeficiency 84
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS2143873917 Health Risk Pathogenic Immunodeficiency 84, Immunodeficiency 84
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