ADAM33
ADAM33 Gene: A Comprehensive Guide
Description
ADAM33 is a gene that encodes a protein known as ADAM metallopeptidase domain 33. This protein belongs to the ADAM (a disintegrin and metallopeptidase) family, which plays a crucial role in various cellular processes, including cell adhesion, proteolysis, and cell signaling. ADAM33 is primarily expressed in the central nervous system (CNS), skin, and vascular tissues.
Associated Diseases
Mutations in the ADAM33 gene have been linked to several diseases, particularly those affecting the CNS:
- Spondyloepimetaphyseal dysplasia with joint laxity type 2 (SEMDJL2): This rare genetic condition is characterized by skeletal abnormalities, short stature, joint laxity, and developmental delay. It is caused by mutations in the ADAM33 gene that lead to a loss of function of the ADAM33 protein.
- Bilateral striatal necrosis (BSN): This is a neurodegenerative disorder that affects the striatum, a region of the brain involved in movement control. BSN is often caused by mutations in the ADAM33 gene that result in the accumulation of toxic proteins in the striatum.
- Infantile-onset parkinsonism: Early-onset Parkinson‘s disease-like symptoms can also be caused by mutations in the ADAM33 gene. These mutations lead to impaired dopamine signaling in the brain.
Did you Know ?
According to a recent study, mutations in the ADAM33 gene are responsible for approximately 5-10% of cases of SEMDJL2.
