LOC100996342
Loc100996342: An In-Depth Exploration
Description
Loc100996342 is a gene that plays a crucial role in regulating the activity of other genes. It is located on chromosome 10 and encodes a protein that is involved in the process of transcription, where DNA is copied into messenger RNA (mRNA). mRNA is then used to guide the synthesis of proteins in cells.
Loc100996342 is expressed in a variety of tissues and organs throughout the body, including the brain, heart, liver, and kidneys. It is essential for normal embryonic development and growth. Mutations in loc100996342 have been linked to several diseases, including intellectual disability, autism spectrum disorder, and certain types of cancer.
Associated Diseases
- Intellectual Disability: Mutations in loc100996342 have been associated with intellectual disability, which is characterized by significant limitations in intellectual functioning and adaptive behavior.
- Autism Spectrum Disorder (ASD): Studies have suggested that mutations in loc100996342 may increase the risk of developing ASD, a complex neurological and developmental disorder characterized by social and communication difficulties.
- Cancer: Alterations in loc100996342 have been linked to the development of certain types of cancer, including breast cancer, lung cancer, and melanoma.
Did you Know ?
Approximately 1 in 10,000 individuals worldwide are estimated to carry a mutation in loc100996342.
