LOC101927770
Loc101927770: A Gene with a Role in Neurological and Ocular Development
Description:
Loc101927770 is a gene located on chromosome 10q24.32. It encodes a protein called LOC101927770, which is highly conserved across species and expressed in various tissues, including the brain, eyes, and kidneys. LOC101927770 is involved in cellular processes essential for normal development and function.
Associated Diseases:
Mutations in the Loc101927770 gene have been linked to several neurological and ocular disorders, including:
- Microcephaly: A rare condition characterized by an abnormally small head size.
- Intellectual Disability: Developmental delays and cognitive impairment.
- Autistic Spectrum Disorder (ASD): A neurodevelopmental disorder affecting social communication and behavior.
- Retinal Dystrophy: A group of inherited eye diseases that damage the light-sensitive cells in the retina.
- Cone-Rod Dystrophy: A type of retinal dystrophy specifically affecting the cone and rod cells responsible for color vision and low-light vision.
Did you Know ?
- Mutations in Loc101927770 are estimated to be responsible for approximately 1% of cases of microcephaly and intellectual disability.
