CCDC113

CCDC113_coiled-coil_domain_containing_113_-_Homo_sapiens_(human).png

Protein-coding gene in the species Homo sapiens

CCDC113

Symbol	CCDC113
HGNC ID	26168
Alternative symbols	–
Entrez Gene	–
OMIM	–
RefSeq	–
UniProt	–
Chromosome	16q22.1
Locus supplementary data	–

CCDC113 (Coiled-Coil Domain Containing 113) is a protein-coding gene in the species Homo sapiens. The gene is located on the long arm (q) of chromosome 16 at position 22.1.

Function

The exact function of the CCDC113 protein is not fully understood. However, proteins with coiled-coil domains are often involved in a variety of cellular processes, including cell signaling, gene expression, and the maintenance of cellular structure.

Gene Structure

The CCDC113 gene consists of multiple exons and introns, which are typical features of eukaryotic genes. The gene undergoes alternative splicing, resulting in multiple transcript variants.

Expression

CCDC113 is expressed in various tissues, with higher expression levels observed in certain tissues such as the brain, heart, and liver. The expression pattern suggests that CCDC113 may play a role in the normal functioning of these organs.

Clinical Significance

Mutations or alterations in the CCDC113 gene have been studied in the context of various diseases, although no direct associations have been conclusively established. Further research is needed to determine the potential clinical implications of CCDC113.

Research

Ongoing research aims to elucidate the specific functions of the CCDC113 protein and its role in human health and disease. Studies often utilize techniques such as gene knockout, RNA interference, and protein-protein interaction assays.

See also

• Chromosome 16
• Protein-coding gene
• Coiled-coil domain

References

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