SSBP1 Chromosome 7
Single stranded DNA binding protein 1
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What This Gene Does
SSBP1 is a housekeeping gene involved in mitochondrial biogenesis (Tiranti et al., 1995 [PubMed 7789991]). It is also a subunit of a single-stranded DNA (ssDNA)-binding complex involved in the maintenance of genome stability (Huang et al., 2009) [PubMed 19683501].[supplied by OMIM, Feb 2010]
Gene Info
Gene Group
Mitochondrial nucleoid associated proteins
Locus Type
gene with protein product
Location
7q34
Ensembl
ENSG00000106028
Associated Conditions (3)
Optic atrophy 13 with retinal and foveal abnormalities
Cone-rod dystrophy
Retinal disorder
Key Variants
RS1799653139
Likely pathogenic
Optic atrophy 13 with retinal and foveal abnormalities, Optic atrophy 13 with retinal and foveal abnormalities
Health Risk
RS1799652893
Pathogenic
Optic atrophy 13 with retinal and foveal abnormalities, Cone-rod dystrophy, Optic atrophy 13 with retinal and foveal abnormalities
Health Risk
RS1799747454
Pathogenic
Optic atrophy 13 with retinal and foveal abnormalities, Retinal disorder, Optic atrophy 13 with retinal and foveal abnormalities
Health Risk
RS1799915649
Pathogenic
Optic atrophy 13 with retinal and foveal abnormalities, Optic atrophy 13 with retinal and foveal abnormalities
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1799653139 | Health Risk | Likely pathogenic | Optic atrophy 13 with retinal and foveal abnormalities, Optic atrophy 13 with retinal and foveal abnormalities |
| RS1799652893 | Health Risk | Pathogenic | Optic atrophy 13 with retinal and foveal abnormalities, Cone-rod dystrophy, Optic atrophy 13 with retinal and foveal abnormalities |
| RS1799747454 | Health Risk | Pathogenic | Optic atrophy 13 with retinal and foveal abnormalities, Retinal disorder, Optic atrophy 13 with retinal and foveal abnormalities |
| RS1799915649 | Health Risk | Pathogenic | Optic atrophy 13 with retinal and foveal abnormalities, Optic atrophy 13 with retinal and foveal abnormalities |