Biology:ADCK2
From HandWiki
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.[1]
Expression
ADCK2 is ubiquitously expressed across various human tissues, with notable expression in skin and brain tissue, among others.[1]
Clinical significance
Research indicates that ADCK2 may have therapeutic implications in diseases such as myopathy.[2]
References
- ↑ 1.0 1.1 1.2 "ADCK2 aarF domain containing kinase 2 [Homo sapiens (Human)] - Gene – NCBI". https://www.ncbi.nlm.nih.gov/gene/90956.
- ↑ Vázquez-Fonseca, L; Schaefer, J; Navas-Enamorado, I; Santos-Ocaña, C; Hernández-Camacho, JD; Guerra, I; Cascajo, MV; Sánchez-Cuesta, A et al. (2 September 2019). "ADCK2 Haploinsufficiency Reduces Mitochondrial Lipid Oxidation and Causes Myopathy Associated with CoQ Deficiency.". Journal of Clinical Medicine 8 (9): 1374. doi:10.3390/jcm8091374. PMID 31480808.
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