LOC101928118
Loc101928118: A Protein with Essential Roles in Human Health
Description:
Loc101928118 is a protein encoded by the C15orf48 gene in humans. It is a 39-kDa protein that belongs to the C15orf family of proteins. Loc101928118 is expressed in various tissues and organs, including the brain, heart, liver, and skeletal muscle. It is involved in several cellular processes, including cell cycle regulation, DNA repair, and apoptosis.
Associated Diseases:
Mutations in the C15orf48 gene have been linked to several human diseases, including:
- Microcephaly: Microcephaly refers to abnormally small head size, which is often associated with intellectual disability. Mutations in Loc101928118 can cause microcephaly with or without intellectual disability.
- Intellectual Disability: Intellectual disability is characterized by significant impairments in cognitive and adaptive functioning. Mutations in Loc101928118 have been identified in individuals with intellectual disability without microcephaly.
- Cardiovascular Disease: Loc101928118 has been implicated in the development of cardiovascular diseases, such as atherosclerosis and heart failure. Mutations in the C15orf48 gene have been associated with an increased risk of these diseases.
Did you Know ?
Approximately 1 in 100,000 newborns are affected by microcephaly linked to mutations in the C15orf48 gene.
