SMS : spermine synthase
Description
The spermine synthase (SMS) gene provides the instructions for creating spermine synthase, an enzyme that plays a crucial role in the production of spermine, a polyamine molecule essential for various cellular processes. Spermine synthase catalyzes the conversion of another polyamine, spermidine, into spermine.
Associated Diseases
Mutations in the SMS gene have been linked to several neurological and developmental disorders, including:
- Smith-Lemli-Opitz syndrome (SLOS): A rare genetic condition characterized by intellectual disability, physical abnormalities, and behavioral problems.
- Microcephaly: A condition where the head circumference is significantly smaller than expected for the age and sex.
- Intellectual disability: Impaired cognitive abilities, including problems with learning, memory, and problem-solving.
Did you Know ?
Studies have shown that individuals with SLOS have significantly lower levels of spermine in their cerebrospinal fluid compared to healthy individuals. This finding suggests that spermine deficiency may contribute to the neurological symptoms observed in SLOS.
