LOC102723833
Description
Loc102723833 is a gene located on the long arm of chromosome 11. It encodes a protein called transmembrane protein 176B (TMEM176B). TMEM176B is a transmembrane protein that is expressed in a variety of tissues, including the brain, heart, liver, and lungs.
The function of TMEM176B is not fully understood, but it is thought to play a role in cell membrane trafficking. TMEM176B has been shown to interact with a number of other proteins, including the SNARE protein VAMP2 and the Rab GTPase RAB7. These interactions suggest that TMEM176B may be involved in the regulation of vesicle trafficking.
Associated Diseases
Mutations in the LOC102723833 gene have been associated with a number of diseases, including:
- Autism spectrum disorder (ASD): ASD is a complex neurodevelopmental disorder characterized by social difficulties, communication problems, and repetitive behaviors. Mutations in the LOC102723833 gene have been found in a small number of individuals with ASD.
- Schizophrenia: Schizophrenia is a serious mental illness characterized by hallucinations, delusions, and disorganized thinking. Mutations in the LOC102723833 gene have been found in a small number of individuals with schizophrenia.
- Intellectual disability: Intellectual disability is a condition characterized by significant limitations in intellectual functioning. Mutations in the LOC102723833 gene have been found in a small number of individuals with intellectual disability.
Did you Know ?
A study published in the journal Molecular Psychiatry found that mutations in the LOC102723833 gene are present in approximately 1% of individuals with ASD. This suggests that mutations in the LOC102723833 gene may be a relatively common cause of ASD.
