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DLD

Synonyms
DLDD, DLDH, E3, GCSL, LAD, OGDC-E3, PHE3
External resources
Summary
This gene encodes a member of the class-I pyridine nucleotide-disulfide oxidoreductase family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. In homodimeric form, the encoded protein functions as a dehydrogenase and is found in several multi-enzyme complexes that regulate energy metabolism. However, as a monomer, this protein can function as a protease. Mutations in this gene have been identified in patients with E3-deficient maple syrup urine disease and lipoamide dehydrogenase deficiency. Alternative splicing results in multiple transcript variants.

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
6
Likely pathogenic
2
VUS
3,189
Likely benign
1,598
Benign
90

Patient phenotypes

Proportions of phenotypes among 7 patients carring pathogenic or likely pathogenic variants on DLD gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
57.1%
Abnormality of the cardiovascular system
28.6%
Abnormality of the ear
28.6%
Abnormality of the eye
28.6%
Abnormality of the genitourinary system
28.6%
Abnormality of the musculoskeletal system
28.6%
Abnormality of blood and blood-forming tissues
14.3%
Abnormality of head or neck
14.3%
Abnormality of limbs
14.3%
Abnormality of prenatal development or birth
14.3%
Abnormality of the digestive system
14.3%
Abnormality of the endocrine system
14.3%
Abnormality of the integument
14.3%
Growth abnormality
14.3%
Neoplasm
14.3%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
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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