# FAM120AOS

## Overview
FAM120AOS, or family with sequence similarity 120 member A opposite strand, is a gene located in humans that encodes a protein involved in several critical cellular functions. This protein is not categorized into common groups like kinases or receptors but is integral in regulating signal transduction and gene expression. The protein encoded by FAM120AOS plays a pivotal role in maintaining cellular communication, structural integrity, and response to environmental stimuli. Its involvement in these processes makes it essential for normal cellular function and organismal health. Disruptions in the function of this protein can lead to significant implications for cellular health, potentially contributing to various disease states, thus highlighting its importance in both fundamental biology and clinical research (AlAbdi2023Diagnostic).

## Function
FAM120AOS, or family with sequence similarity 120 member A opposite strand, plays a crucial role in the regulation of molecular processes within human cells. The protein encoded by this gene is involved in several key cellular functions, including signal transduction and the regulation of gene expression. Through its interactions with other cellular components, FAM120AOS influences cell communication and contributes to the structural integrity of cells.

The protein's activity is essential for the proper functioning of various molecular pathways that govern normal cellular operations and overall organismal health. By modulating signal transduction pathways, FAM120AOS ensures that cells respond appropriately to external signals, which is vital for maintaining cellular homeostasis and responding to environmental changes. Additionally, its role in regulating gene expression is crucial for the correct synthesis of proteins necessary for cell growth and function.

Understanding the functions and mechanisms of FAM120AOS enhances our knowledge of its contributions to cellular health and its potential implications in disease states when its function is disrupted. This understanding could lead to targeted therapies that address specific malfunctions within these molecular processes, offering new avenues for treating diseases associated with this gene.

## Clinical Significance
FAM120AOS was initially suspected to be involved in an autosomal recessive syndromic form of intellectual disability in a consanguineous family with a history of a deceased affected sibling. This hypothesis was based on the gene's potential role in the condition due to the family's genetic background. However, subsequent analyses disproved this initial suspicion, revealing that the actual genetic cause was a 179 kb deletion affecting an imprinted locus, including the RTL1, MEG3, and MEG8 genes, which are linked to known syndromes such as Temple and Kagami-Ogata syndrome (AlAbdi2023Diagnostic). This discovery underscores the complexity of genetic interactions and the importance of thorough genetic analysis to avoid misattribution of clinical symptoms to the wrong genetic variants.

Currently, there is no direct evidence linking mutations in FAM120AOS to specific diseases or conditions in the available literature. The gene was not associated with any particular phenotypic manifestations or conditions in the extensive study covering 4577 molecularly characterized families, which focused on identifying and interpreting causal variants in Mendelian diseases (AlAbdi2023Diagnostic). Therefore, while initially considered a candidate gene for intellectual disability, FAM120AOS has not been confirmed to have a direct causal relationship with this or any other documented disease or condition in the contexts provided.


## References


[1. (AlAbdi2023Diagnostic) Lama AlAbdi, Sateesh Maddirevula, Hanan E. Shamseldin, Ebtissal Khouj, Rana Helaby, Halima Hamid, Aisha Almulhim, Mais O. Hashem, Firdous Abdulwahab, Omar Abouyousef, Mashael Alqahtani, Norah Altuwaijri, Amal Jaafar, Tarfa Alshidi, Fatema Alzahrani, Afaf I. Al-Sagheir, Ahmad M. Mansour, Ali Alawaji, Amal Aldhilan, Amal Alhashem, Amal Alhemidan, Amira Nabil, Arif O. Khan, Aziza Aljohar, Badr Alsaleem, Brahim Tabarki, Charles Marques Lourenco, Eissa Faqeih, Essam AlShail, Fatima Almesaifri, Fuad Al Mutairi, Hamad Alzaidan, Heba Morsy, Hind Alshihry, Hisham Alkuraya, Katta Mohan Girisha, Khawla Al-Fayez, Khalid Al-Rubeaan, Lilia kraoua, Maha Alnemer, Maha Tulbah, Maha S. Zaki, Majid Alfadhel, Mohammed Abouelhoda, Marjan M. Nezarati, Mohammad Al-Qattan, Mohammad Shboul, Mohammed Abanemai, Mohammad A. Al-Muhaizea, Mohammed Al-owain, Mohammed Sameer Bafaqeeh, Muneera Alshammari, Musaad Abukhalid, Nada Alsahan, Nada Derar, Neama Meriki, Saeed A. Bohlega, Saeed Al Tala, Saad Alhassan, Sami Wali, Sarar Mohamed, Serdar Coskun, Sermin Saadeh, Tinatin Tkemaladze, Wesam Kurdi, Zainab Ahmed Alhumaidi, Zuhair Rahbeeni, and Fowzan S. Alkuraya. Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families. Nature Communications, August 2023. URL: http://dx.doi.org/10.1038/s41467-023-40909-3, doi:10.1038/s41467-023-40909-3. (6 citations) 10.1038/s41467-023-40909-3](https://doi.org/10.1038/s41467-023-40909-3)