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GCAT

Synonyms
KBL
External resources
Summary
The degradation of L-threonine to glycine consists of a two-step biochemical pathway involving the enzymes L-threonine dehydrogenase and 2-amino-3-ketobutyrate coenzyme A ligase. L-Threonine is first converted into 2-amino-3-ketobutyrate by L-threonine dehydrogenase. This gene encodes the second enzyme in this pathway, which then catalyzes the reaction between 2-amino-3-ketobutyrate and coenzyme A to form glycine and acetyl-CoA. The encoded enzyme is considered a class II pyridoxal-phosphate-dependent aminotransferase. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 14.

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
67
Likely pathogenic
15
VUS
1,902
Likely benign
29
Benign
0

Patient phenotypes

Proportions of phenotypes among 78 patients carring pathogenic or likely pathogenic variants on GCAT gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
46.2%
Abnormality of the musculoskeletal system
28.2%
Abnormality of head or neck
19.2%
Abnormality of the eye
15.4%
Abnormality of the ear
14.1%
Abnormality of the genitourinary system
11.5%
Abnormality of the integument
11.5%
Abnormality of the cardiovascular system
10.3%
Growth abnormality
10.3%
Abnormality of limbs
9%
Abnormality of the immune system
6.4%
Abnormality of prenatal development or birth
5.1%
Abnormality of the digestive system
2.6%
Abnormality of blood and blood-forming tissues
1.3%
Abnormality of the endocrine system
1.3%
Abnormality of the respiratory system
1.3%
Constitutional symptom
1.3%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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