WDR53
Description
The WDR53 (WD repeat domain 53) is a protein-coding gene located on chromosome 3.
WDR53, located on chromosome 3 at 3q29, is a protein encoded by the WDR53 gene in humans. It has short untranslated regions and WD40 repeat regions linked to various cellular functions. It is highly expressed in the testes but exhibits very low expression in other tissues. The gene itself is on the negative strand of chromosome 3, has four exons, and transcribes a 1701-base-pair mRNA. This mRNA can undergo alternative splicing, resulting in six different mRNA products. The protein contains seven WD40 regions and is composed of 358 amino acids.
The function of WDR53 is currently unknown, but its presence in the human genome was identified by the Human Genome Project. Its WD40 repeat regions suggest potential roles in processes like signal transduction, transcription regulation, and apoptosis.
WDR53 is also known as -.
Associated Diseases
- lip disorder
- mouth mucosa disorder
- Rh deficiency syndrome
- dehydrated hereditary stomatocytosis
- gluthathione peroxidase deficiency
- hemolytic anemia due to erythrocyte adenosine deaminase overproduction
- primary familial polycythemia due to EPO receptor mutation
- hemolytic anemia due to glutathione reductase deficiency
- diabetes mellitus, permanent neonatal 4
- sitosterolemia
- elliptocytosis 2
- megaloblastic anemia, folate-responsive
- diabetes mellitus, transient neonatal, 3
- cholesterol-ester transfer protein deficiency
- neonatal intrahepatic cholestasis due to citrin deficiency
- permanent neonatal diabetes mellitus 1
