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B3GAT3

Synonyms
GLCATI, JDSCD, glcUAT-I
External resources
Summary
The protein encoded by this gene is a member of the glucuronyltransferase gene family, enzymes that exhibit strict acceptor specificity, recognizing nonreducing terminal sugars and their anomeric linkages. This gene product catalyzes the formation of the glycosaminoglycan-protein linkage by way of a glucuronyl transfer reaction in the final step of the biosynthesis of the linkage region of proteoglycans. A pseudogene of this gene has been identified on chromosome 3.

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
33
Likely pathogenic
30
VUS
1,015
Likely benign
1,865
Benign
1,161

Patient phenotypes

Proportions of phenotypes among 63 patients carring pathogenic or likely pathogenic variants on B3GAT3 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
41.3%
Abnormality of head or neck
27%
Abnormality of the musculoskeletal system
25.4%
Abnormality of the cardiovascular system
12.7%
Abnormality of the eye
12.7%
Growth abnormality
12.7%
Abnormality of the ear
11.1%
Abnormality of the genitourinary system
11.1%
Abnormality of limbs
9.5%
Abnormality of blood and blood-forming tissues
6.3%
Abnormality of the endocrine system
6.3%
Abnormality of the immune system
4.8%
Abnormality of the integument
4.8%
Abnormality of the respiratory system
4.8%
Abnormal cellular phenotype
1.6%
Abnormality of prenatal development or birth
1.6%
Abnormality of the digestive system
1.6%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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