SOHLH1 Chromosome 9
Spermatogenesis and oogenesis specific basic helix-loop-helix 1
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What This Gene Does
This gene encodes one of testis-specific transcription factors which are essential for spermatogenesis, oogenesis and folliculogenesis. This gene is located on chromosome 9. Mutations in this gene are associated with nonobstructive azoospermia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2013]
Gene Info
Gene Group
Basic helix-loop-helix proteins
Locus Type
gene with protein product
Location
9q34.3
Ensembl
ENSG00000165643
Associated Conditions (6)
Spermatogenic failure 32
Spermatogenic Failure
Ovarian dysgenesis 5
Hepatocellular carcinoma
Genetic non-acquired premature ovarian failure
Nonsyndromic hypergonadotropic hypogonadism
Key Variants
RS140132974
Conflicting classifications of pathogenicity
Spermatogenic failure 32, Spermatogenic Failure, Ovarian dysgenesis 5
Health Risk
RS2131296288
Likely pathogenic
Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure
Health Risk
RS2490519684
Likely pathogenic
Ovarian dysgenesis 5, Ovarian dysgenesis 5
Health Risk
RS864309645
Likely pathogenic
Nonsyndromic hypergonadotropic hypogonadism, Ovarian dysgenesis 5, Nonsyndromic hypergonadotropic hypogonadism
Health Risk
RS1049447746
Pathogenic
Health Risk
RS864309646
Pathogenic/Likely pathogenic
Nonsyndromic hypergonadotropic hypogonadism, Ovarian dysgenesis 5, Nonsyndromic hypergonadotropic hypogonadism
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140132974 | Health Risk | Conflicting classifications of pathogenicity | Spermatogenic failure 32, Spermatogenic Failure, Ovarian dysgenesis 5 |
| RS2131296288 | Health Risk | Likely pathogenic | Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure |
| RS2490519684 | Health Risk | Likely pathogenic | Ovarian dysgenesis 5, Ovarian dysgenesis 5 |
| RS864309645 | Health Risk | Likely pathogenic | Nonsyndromic hypergonadotropic hypogonadism, Ovarian dysgenesis 5, Nonsyndromic hypergonadotropic hypogonadism |
| RS1049447746 | Health Risk | Pathogenic | — |
| RS864309646 | Health Risk | Pathogenic/Likely pathogenic | Nonsyndromic hypergonadotropic hypogonadism, Ovarian dysgenesis 5, Nonsyndromic hypergonadotropic hypogonadism |