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MGAT4B

Synonyms
GNT-IV, GNT-IVB
External resources
Summary
This gene encodes a key glycosyltransferase that regulates the formation of tri- and multiantennary branching structures in the Golgi apparatus. The encoded protein, in addition to the related isoenzyme A, catalyzes the transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc in a beta-1,4 linkage to the Man-alpha-1,3-Man-beta-1,4-GlcNAc arm of R-Man-alpha-1,6(GlcNAc-beta-1,2-Man-alpha-1,3)Man-beta-1, 4-GlcNAc-beta-1,4-GlcNAc-beta-1-Asn. The encoded protein may play a role in regulating the availability of serum glycoproteins, oncogenesis, and differentiation.

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
15
Likely pathogenic
0
VUS
3,230
Likely benign
907
Benign
0

Patient phenotypes

Proportions of phenotypes among 15 patients carring pathogenic or likely pathogenic variants on MGAT4B gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
53.3%
Abnormality of the eye
40%
Abnormality of the musculoskeletal system
26.7%
Abnormality of head or neck
13.3%
Abnormality of the integument
13.3%
Abnormality of blood and blood-forming tissues
6.7%
Abnormality of limbs
6.7%
Abnormality of prenatal development or birth
6.7%
Abnormality of the cardiovascular system
6.7%
Growth abnormality
6.7%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the ear
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary 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%
Neoplasm
0%

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