SOHLH1 gene

spermatogenesis and oogenesis specific basic helix-loop-helix 1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Transcription regulator of both male and female germline differentiation. Suppresses genes involved in spermatogonial stem cells maintenance, and induces genes important for spermatogonial differentiation. Coordinates oocyte differentiation without affecting meiosis I.

From NCBI Gene:

  • SPERMATOGENIC FAILURE 32
  • OVARIAN DYSGENESIS 5

From UniProt:

Ovarian dysgenesis 5 (ODG5): A disorder characterized by lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism as a result of streak gonads. ODG5 is an autosomal recessive condition. [MIM:617690]

Genetic variations in SOHLH1 may be associated with non-obstructive azoospermia.

Cytogenetic Location: 9q34.3, which is the long (q) arm of chromosome 9 at position 34.3

Molecular Location: base pairs 135,691,862 to 135,702,112 on chromosome 9 (Homo sapiens Annotation Release 109, GRCh38.p12) (NCBI)

Cytogenetic Location: 9q34.3, which is the long (q) arm of chromosome 9 at position 34.3
  • bA100C15.3
  • bHLHe80
  • C9orf157
  • NOHLH
  • ODG5
  • SPATA27
  • SPGF32
  • TEB2