LOC400612
Description of LOC400612
LOC400612 is a gene located on chromosome 1 that encodes a protein called LOC400612 or C1orf190. This protein is involved in various cellular processes, including RNA splicing, cell cycle regulation, and DNA repair.
Associated Diseases
Mutations in the LOC400612 gene have been linked to several genetic diseases, including:
- Intellectual disability with microcephaly and seizures: This rare disorder is characterized by intellectual disability, microcephaly (small head size), and seizures. Mutations in LOC400612 are believed to cause this condition by disrupting the protein's role in RNA splicing.
- Congenital malformations: Some mutations in LOC400612 have been associated with congenital malformations, such as cleft palate and heart defects.
- Cancer: Overexpression of LOC400612 has been observed in certain types of cancer, including breast cancer and melanoma. It is believed that the protein may promote tumor growth and metastasis.
Did you Know ?
Studies have shown that mutations in the LOC400612 gene are estimated to occur in approximately 1 in 10,000 individuals.
