LOC100507462
Description
Loc100507462 is a gene located on chromosome 10p11.23. It encodes a protein called LOC100507462, which is thought to be involved in regulating gene expression.
Associated Diseases
Mutations in the LOC100507462 gene have been linked to several rare genetic disorders, including:
- Intellectual disability, speech delay, and seizures (IDSS): IDSS is characterized by intellectual disability, speech delay, and seizures. Mutations in the LOC100507462 gene are responsible for approximately 10% of cases of IDSS.
- Microcephaly and developmental delay (MCDD): MCDD is characterized by microcephaly (an abnormally small head) and developmental delay. Mutations in the LOC100507462 gene are thought to be responsible for some cases of MCDD.
- Joubert syndrome: Joubert syndrome is a rare genetic disorder characterized by a distinctive brain malformation called the molar tooth sign. Mutations in the LOC100507462 gene have been identified in some cases of Joubert syndrome.
Did you Know ?
- Approximately 1 in 50,000 people worldwide are affected by a mutation in the LOC100507462 gene.
