TMEM119
Description
The TMEM119 (transmembrane protein 119) is a protein-coding gene located on chromosome 12.
TMEM119 is a crucial protein involved in bone formation and mineralization. It promotes the transformation of myoblasts into osteoblasts, a process essential for bone development. This transformation is facilitated by TMEM119's ability to enhance BMP2 production and interact with the BMP-RUNX2 signaling pathway. Moreover, TMEM119 upregulates the expression of ATF4, a transcription factor that plays a key role in osteoblast differentiation. Beyond its role in bone development, TMEM119 is also essential for normal spermatogenesis and late testicular differentiation.
TMEM119 is also known as OBIF.
Associated Diseases
- isolated congenital hypogonadotropic hypogonadism
- 46,XX testicular disorder of sex development
- 46,XY complete gonadal dysgenesis
- 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- familial male-limited precocious puberty
- spermatogenic failure, X-linked, 2
- X-linked intellectual disability-macrocephaly-macroorchidism syndrome
- partial chromosome Y deletion
