SLMO2
Title: Uncovering the Secrets of SLMO2 Gene
Description:
The SLMO2 (SloMo Homolog 2) gene is a pivotal player in human biology, encoding a protein involved in a myriad of cellular processes. This blog post delves into the fascinating world of SLMO2, exploring its functions, associated diseases, research findings, and its broader implications in human health.
Associated Diseases:
- Perrault Syndrome: A rare autosomal recessive disorder characterized by ovarian dysgenesis (underdeveloped ovaries), sensorineural hearing loss, microcephaly (small head size), and other developmental abnormalities. Mutations in SLMO2 are the leading cause of Perrault Syndrome.
- Mitochondrial Disorders: SLMO2 plays a crucial role in mitochondrial function, and defects in the gene can lead to mitochondrial disorders, affecting energy production and cellular health.
- Cancer: Recent studies have implicated SLMO2 in cancer progression. Mutations or altered expression of SLMO2 have been linked to certain types of cancer, including leukemia and breast cancer.
Did you Know ?
- Only about 1 in every 100,000 newborns is affected by Perrault Syndrome, highlighting its rarity.
