ADCK2 explained

ADCK2 (aarF domain containing kinase 2) is an enzyme that in humans is encoded by the ADCK2 gene. It is situated on chromosome 7 at the q34 location.

Function

ADCK2 is predicted to possess ATP binding activity and protein serine/threonine kinase activity. The protein is predicted to be an integral part of the membrane.^[1]

Genomic context

The ADCK2 gene is located on chromosome 7q34. The genomic sequence spans 22,165 base pairs from 140,672,945 to 140,695,110 on the GRCh38.p14 primary assembly. It consists of 8 exons.

Expression

ADCK2 is ubiquitously expressed across various human tissues, with notable expression in skin and brain tissue, among others.

Clinical significance

Research indicates that ADCK2 may have therapeutic implications in diseases such as myopathy.^[2]

Notes and References

1. Web site: ADCK2 aarF domain containing kinase 2 [Homo sapiens (Human)] - Gene – NCBI .
2. Vázquez-Fonseca . L . Schaefer . J . Navas-Enamorado . I . Santos-Ocaña . C . Hernández-Camacho . JD . Guerra . I . Cascajo . MV . Sánchez-Cuesta . A . Horvath . Z . Siendones . E . Jou . C . Casado . M . Gutiérrez . P . Brea-Calvo . G . López-Lluch . G . Fernández-Ayala . DJM . Cortés-Rodríguez . AB . Rodríguez-Aguilera . JC . Matté . C . Ribes . A . Prieto-Soler . SY . Dominguez-Del-Toro . E . Francesco . AD . Aon . MA . Bernier . M . Salviati . L . Artuch . R . Cabo . R . Jackson . S . Navas . P . ADCK2 Haploinsufficiency Reduces Mitochondrial Lipid Oxidation and Causes Myopathy Associated with CoQ Deficiency. . Journal of Clinical Medicine . 2 September 2019 . 8 . 9 . 1374 . 10.3390/jcm8091374 . free . 31480808. 10261/209337 . free .