SOHLH1

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. Transcription factor expressed in undifferentiated spermatogonia required for spermatogonial development.

Full Name

SOHLH1

Function

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 (By similarity).

Biological Process

Biological Process cell differentiationISS:UniProtKB
Biological Process oocyte differentiationISS:UniProtKB
Biological Process regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIBA:GO_Central
Biological Process spermatogenesisISS:UniProtKB

Cellular Location

Cytoplasm
Nucleus

Involvement in disease

Spermatogenic failure 32 (SPGF32):
An autosomal dominant infertility disorder caused by spermatogenesis defects that result in non-obstructive azoospermia.
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.