GINS1 Chromosome 20
GINS complex subunit 1
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What This Gene Does
The yeast heterotetrameric GINS complex is made up of Sld5 (GINS4; MIM 610611), Psf1, Psf2 (GINS2; MIM 610609), and Psf3 (GINS3; MIM 610610). The formation of the GINS complex is essential for the initiation of DNA replication in yeast and Xenopus egg extracts (Ueno et al., 2005 [PubMed 16287864]).[supplied by OMIM, Mar 2008]
Gene Info
Gene Group
GINS complex
Locus Type
gene with protein product
Location
20p11.21
Ensembl
ENSG00000101003
Associated Conditions (2)
Combined immunodeficiency due to GINS1 deficiency
GINS1-related disorder
Key Variants
RS137901350
Conflicting classifications of pathogenicity
Combined immunodeficiency due to GINS1 deficiency, GINS1-related disorder, Combined immunodeficiency due to GINS1 deficiency
Health Risk
RS200596482
Conflicting classifications of pathogenicity
Health Risk
RS376610445
Likely pathogenic
Combined immunodeficiency due to GINS1 deficiency, Combined immunodeficiency due to GINS1 deficiency
Health Risk
RS2146178281
Pathogenic
Combined immunodeficiency due to GINS1 deficiency, Combined immunodeficiency due to GINS1 deficiency
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS137901350 | Health Risk | Conflicting classifications of pathogenicity | Combined immunodeficiency due to GINS1 deficiency, GINS1-related disorder, Combined immunodeficiency due to GINS1 deficiency |
| RS200596482 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS376610445 | Health Risk | Likely pathogenic | Combined immunodeficiency due to GINS1 deficiency, Combined immunodeficiency due to GINS1 deficiency |
| RS2146178281 | Health Risk | Pathogenic | Combined immunodeficiency due to GINS1 deficiency, Combined immunodeficiency due to GINS1 deficiency |