Gene of the Month – August: DDX11

New insights into the importance of DDX11 for genomic integrity and cell vitality have been reported in a study published in Nature Communications. DDX11 is a DNA helicase and fulfils essential [...]

Gene of the Month – July: MAPK1

De novo variants of the MAPK1 gene have been identified as underlying a novel neurodevelopmental disorder within the clinical spectrum of rasopathies. This family of genetic disorders includes [...]

Gene of the Month – June: GP2

GP2 gene variants may be associated with an increased risk for pancreatic cancer. This is suggested by the results of a meta-analysis of three genome-wide association studies published in Nature [...]

Gene of the Month – May: FBRSL1

Mutations in the FBRSL1 gene cause a previously undescribed syndrome associated with malformations and intellectual disability. A study led by scientists of the Institute of Human Genetics at the [...]

Gene of the Month – April: TET2

Variants of the TET2 gene might be a risk factor for the development of neurodegenerative diseases. In their study published in The American Journal of Human Genetics, US researchers initially [...]

Gene of the Month – March: EPHA2

Researchers from Germany and Japan identified EPHA2 as a new gene that causes Pendred syndrome if heterozygous mutations in the gene occur in combination with mutations in the SLC26A4 gene. [...]

Gene of the Month – February: TMEM120A/TACAN

The gene product of tmem120a in mice is involved in sensing mechanical pain. Canadian scientists report in Cell that they identified the protein as an ion channel with mechanosensitive [...]

Gene of the Month – January: ARID1A

A recently published study describes that the ARID1A gene plays a role in hormone dependency of tumor cells in breast cancer and provides new insights into the processes that lead to endocrine [...]

Gene of the Month – December: RHOA

A postzygotic mutation in RHOA has been identified as the genetic cause of a distinct mosaic disorder in humans. RHOA is a member of the Rho family of GTPases, which have many roles in [...]

Gene of the Month – November: MRAP2

Variants of the MRAP2 gene have already been described as causing monogenic obesity. However, the precise functional consequences of these variants have remained unclear. Now a large study [...]