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PDK4

Synonyms
-
External resources
Summary
This gene is a member of the PDK/BCKDK protein kinase family and encodes a mitochondrial protein with a histidine kinase domain. This protein is located in the matrix of the mitrochondria and inhibits the pyruvate dehydrogenase complex by phosphorylating one of its subunits, thereby contributing to the regulation of glucose metabolism. Expression of this gene is regulated by glucocorticoids, retinoic acid and insulin.

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
23
Likely pathogenic
0
VUS
2,845
Likely benign
805
Benign
0

Patient phenotypes

Proportions of phenotypes among 22 patients carring pathogenic or likely pathogenic variants on PDK4 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
40.9%
Abnormality of the musculoskeletal system
27.3%
Abnormality of the ear
22.7%
Abnormality of head or neck
18.2%
Abnormality of the cardiovascular system
18.2%
Growth abnormality
18.2%
Abnormality of the endocrine system
13.6%
Abnormality of the eye
13.6%
Abnormality of the genitourinary system
13.6%
Abnormality of limbs
9.1%
Abnormality of the breast
4.5%
Abnormality of the integument
4.5%
Neoplasm
4.5%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the digestive system
0%
Abnormality of the immune system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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