FAM160A2
FAM160A2: A Gene with Intriguing Implications in Health and Disease
Description
FAM160A2 (Family With Sequence Similarity 160 Member A2) is a gene located on chromosome 8p23.1. It encodes a protein known as FLJ42177, which is involved in various cellular processes, including protein synthesis, cell growth, and apoptosis.
Associated Diseases
Mutations in FAM160A2 have been linked to several inherited diseases, including:
- Skin diseases: FAM160A2 mutations can cause a rare skin condition called psoriasis-like epidermal hyperplasia (PLEH). PLEH is characterized by thick, reddish patches on the skin, similar to psoriasis.
- Neurological disorders: Mutations in FAM160A2 have also been associated with a neurological disorder known as spastic paraplegia. This condition affects the spinal cord and can lead to weakness and stiffness in the legs.
- Cancer: Some studies have suggested a possible link between FAM160A2 mutations and certain types of cancer, such as lung and breast cancer. However, further research is needed to establish a definitive relationship.
Did you Know ?
Approximately 1 in 200 individuals carries a mutation in the FAM160A2 gene. However, most individuals with FAM160A2 mutations do not develop any symptoms or health problems. This suggests that the penetrance of FAM160A2 mutations is relatively low.
