# CCDC82

## Overview
The CCDC82 gene encodes the coiled-coil domain containing 82 protein, which is characterized by its coiled-coil structural motif. This protein is implicated in various cellular processes, although its precise biological functions remain to be fully elucidated. CCDC82 has been identified as a candidate gene associated with autosomal recessive intellectual disability (ARID), with mutations potentially leading to significant alterations in protein structure and function (Riazuddin2016Exome; Harripaul2017Mapping). Additionally, CCDC82 is involved in the regulation of several cancers, including endometrial, renal, breast, colorectal, and lung squamous cell carcinomas, suggesting its role in cancer development and progression (Priyanka2021CoiledCoil). Further research is necessary to understand the full spectrum of CCDC82's functions and its potential as a therapeutic target.

## Clinical Significance
Mutations in the CCDC82 gene have been implicated in autosomal recessive intellectual disability (ARID). Studies have identified CCDC82 as a novel candidate gene associated with ARID through exome sequencing in consanguineous families. The presence of loss-of-function variants in CCDC82 suggests its potential role in intellectual disability, although further replication in independent families is needed to confirm its involvement (Riazuddin2016Exome; Harripaul2017Mapping). A specific frameshift mutation, c.373delG, p.(Asp125Ilefs*6), was identified in a family, indicating a significant alteration in the protein structure and function, which may contribute to the pathogenesis of intellectual disability (Riazuddin2016Exome).

In addition to its role in intellectual disability, CCDC82 is involved in the regulation of various cancers, including endometrial, renal, breast, colorectal, and lung squamous cell carcinomas. This suggests that alterations in CCDC82 expression or function may contribute to cancer development and progression (Priyanka2021CoiledCoil). The gene's involvement in these conditions highlights the need for further research to explore its clinical significance and potential as a therapeutic target.


## References


[1. (Riazuddin2016Exome) S Riazuddin, M Hussain, A Razzaq, Z Iqbal, M Shahzad, D L Polla, Y Song, E van Beusekom, A A Khan, L Tomas-Roca, M Rashid, M Y Zahoor, W M Wissink-Lindhout, M A R Basra, M Ansar, Z Agha, K van Heeswijk, F Rasheed, M Van de Vorst, J A Veltman, C Gilissen, J Akram, T Kleefstra, M Z Assir, D Grozeva, K Carss, F L Raymond, T D O’Connor, S A Riazuddin, S N Khan, Z M Ahmed, A P M de Brouwer, H van Bokhoven, and S Riazuddin. Exome sequencing of pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability. Molecular Psychiatry, 22(11):1604–1614, July 2016. URL: http://dx.doi.org/10.1038/mp.2016.109, doi:10.1038/mp.2016.109. This article has 101 citations and is from a highest quality peer-reviewed journal.](https://doi.org/10.1038/mp.2016.109)

[2. (Priyanka2021CoiledCoil) Patra Priyadarshini Priyanka and Suresh Yenugu. Coiled-coil domain-containing (ccdc) proteins: functional roles in general and male reproductive physiology. Reproductive Sciences, 28(10):2725–2734, May 2021. URL: http://dx.doi.org/10.1007/s43032-021-00595-2, doi:10.1007/s43032-021-00595-2. This article has 49 citations and is from a peer-reviewed journal.](https://doi.org/10.1007/s43032-021-00595-2)

[3. (Harripaul2017Mapping) R Harripaul, N Vasli, A Mikhailov, M A Rafiq, K Mittal, C Windpassinger, T I Sheikh, A Noor, H Mahmood, S Downey, M Johnson, K Vleuten, L Bell, M Ilyas, F S Khan, V Khan, M Moradi, M Ayaz, F Naeem, A Heidari, I Ahmed, S Ghadami, Z Agha, S Zeinali, R Qamar, H Mozhdehipanah, P John, A Mir, M Ansar, L French, M Ayub, and J B Vincent. Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families. Molecular Psychiatry, 23(4):973–984, April 2017. URL: http://dx.doi.org/10.1038/mp.2017.60, doi:10.1038/mp.2017.60. This article has 136 citations and is from a highest quality peer-reviewed journal.](https://doi.org/10.1038/mp.2017.60)