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FPGT

Synonyms
GFPP
External resources
Summary
L-fucose is a key sugar in glycoproteins and other complex carbohydrates since it may be involved in many of the functional roles of these macromolecules, such as in cell-cell recognition. The fucosyl donor for these fucosylated oligosaccharides is GDP-beta-L-fucose. There are two alternate pathways for the biosynthesis of GDP-fucose; the major pathway converts GDP-alpha-D-mannose to GDP-beta-L-fucose. The protein encoded by this gene participates in an alternate pathway that is present in certain mammalian tissues, such as liver and kidney, and appears to function as a salvage pathway to reutilize L-fucose arising from the turnover of glycoproteins and glycolipids. This pathway involves the phosphorylation of L-fucose to form beta-L-fucose-1-phosphate, and then condensation of the beta-L-fucose-1-phosphate with GTP by fucose-1-phosphate guanylyltransferase to form GDP-beta-L-fucose. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring downstream TNNI3 interacting kinase (TNNI3K) 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
33
Likely pathogenic
0
VUS
647
Likely benign
8
Benign
0

Patient phenotypes

Proportions of phenotypes among 33 patients carring pathogenic or likely pathogenic variants on FPGT gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
33.3%
Abnormality of the musculoskeletal system
27.3%
Abnormality of head or neck
24.2%
Abnormality of the cardiovascular system
24.2%
Abnormality of the ear
24.2%
Growth abnormality
24.2%
Abnormality of the eye
18.2%
Abnormality of the endocrine system
12.1%
Abnormality of limbs
9.1%
Abnormality of prenatal development or birth
9.1%
Abnormality of the genitourinary system
9.1%
Abnormality of the immune system
6.1%
Abnormality of blood and blood-forming tissues
3%
Abnormality of the digestive system
3%
Abnormality of the integument
3%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
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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