ADAM12
ADAM12: A Dysregulated Gene Impacting Developmental Disorders and Cancer
Description: ADAM12, a member of the ADAM (a disintegrin and metallopeptidase) protein family, plays crucial roles in cellular processes involving cell adhesion, migration, and signaling. It is encoded by the ADAM12 gene located on chromosome 10q26.2. As a transmembrane protein, ADAM12 contains an extracellular domain with a catalytic metalloprotease domain, a disintegrin domain, and a cytoplasmic domain. Its expression is widely distributed in various tissues, including the brain, heart, lungs, and kidneys.
Associated Diseases:
Dysregulation of ADAM12 has been linked to a range of developmental disorders and diseases, including:
- Cutis laxa: A rare genetic disorder characterized by loose, wrinkled skin due to defects in collagen synthesis. Mutations in ADAM12 are responsible for a specific subtype called autosomal recessive cutis laxa type 2B.
- Spondylocostal dysostosis (SCD): A severe skeletal disorder affecting the spine and ribcage. ADAM12 mutations cause a rare form of SCD known as SCD type 2.
- Infertility: ADAM12 is essential for sperm development and maturation. Deficiencies or mutations in ADAM12 can lead to male infertility.
- Cancer: ADAM12 has been implicated in the development and progression of various cancers, including lung, breast, and prostate cancers. Its overexpression or aberrant activity can promote tumor growth, metastasis, and resistance to therapy.
Did you Know ?
Mutations in the ADAM12 gene have been identified in approximately 25% of patients with autosomal recessive cutis laxa type 2B, making it the most common genetic cause of this rare disorder.
