Home > Gene Browser > PDK1

PDK1

Synonyms
-
External resources
Summary
Pyruvate dehydrogenase (PDH) is a mitochondrial multienzyme complex that catalyzes the oxidative decarboxylation of pyruvate and is one of the major enzymes responsible for the regulation of homeostasis of carbohydrate fuels in mammals. The enzymatic activity is regulated by a phosphorylation/dephosphorylation cycle. Phosphorylation of PDH by a specific pyruvate dehydrogenase kinase (PDK) results in inactivation. Multiple alternatively spliced transcript variants have been found for this gene.

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
25
Likely pathogenic
2
VUS
5,283
Likely benign
2,383
Benign
0

Patient phenotypes

Proportions of phenotypes among 27 patients carring pathogenic or likely pathogenic variants on PDK1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
37%
Abnormality of the nervous system
25.9%
Growth abnormality
22.2%
Abnormality of the musculoskeletal system
14.8%
Abnormality of head or neck
11.1%
Abnormality of the ear
11.1%
Abnormality of the genitourinary system
11.1%
Abnormality of the integument
11.1%
Abnormality of prenatal development or birth
7.4%
Abnormality of the cardiovascular system
7.4%
Abnormality of the digestive system
7.4%
Neoplasm
7.4%
Abnormality of limbs
3.7%
Abnormality of the breast
3.7%
Abnormality of the endocrine system
3.7%
Abnormality of the immune system
3.7%
Abnormality of the respiratory system
3.7%
Abnormality of the voice
3.7%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%
Constitutional symptom
0%

Have a question or need assistance? Ask here.

Send us your questions or comments related to the variant counts and/or patient phenotypes