Gene: SOHLH1

Alternate names for this Gene: C9orf157|NOHLH|ODG5|SPATA27|SPGF32|TEB2|bA100C15.3|bHLHe80

Gene Summary: 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.

Gene is located in Chromosome: 9

Location in Chromosome : 9q34.3

Description of this Gene: spermatogenesis and oogenesis specific basic helix-loop-helix 1

Type of Gene: protein-coding

rs864309646 in SOHLH1 gene and OVARIAN DYSGENESIS 5 PMID 25774885 2015 Homozygous loss-of-function mutations in SOHLH1 in patients with nonsyndromic hypergonadotropic hypogonadism.

rs864309645 in SOHLH1 gene and Primary hypogonadism PMID 25774885 2015 Homozygous loss-of-function mutations in SOHLH1 in patients with nonsyndromic hypergonadotropic hypogonadism.

rs199935200 in SOHLH1 gene and SPERMATOGENIC FAILURE 32 PMID 20506135 2010 Mutations in SOHLH1 gene associate with nonobstructive azoospermia.

PMID 28718531 2017 Next-generation sequencing for patients with non-obstructive azoospermia: implications for significant roles of monogenic/oligogenic mutations.