UniProt ID | Protein Name | Source |
---|---|---|
Q9H9S5 | Ribitol 5-phosphate transferase FKRP |
HPO ID | HPO Term |
---|---|
HP:0001288 | Gait disturbance |
HP:0001360 | Holoprosencephaly |
HP:0001608 | Abnormality of the voice |
HP:0002167 | Abnormality of speech or vocalization |
HP:0002353 | EEG abnormality |
HP:0002435 | Meningocele |
HP:0003198 | Myopathy |
HP:0003236 | Elevated circulating creatine kinase concentration |
HP:0003457 | EMG abnormality |
HP:0004374 | Hemiplegia/hemiparesis |
Gene ID | Gene Symbol | Description |
---|---|---|
10585 | POMT1 | protein O-mannosyltransferase 1 |
148789 | B3GALNT2 | beta-1,3-N-acetylgalactosaminyltransferase 2 |
2218 | FKTN | fukutin |
29925 | GMPPB | GDP-mannose pyrophosphorylase B |
29954 | POMT2 | protein O-mannosyltransferase 2 |
55624 | POMGNT1 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) |
729920 | CRPPA | CDP-L-ribitol pyrophosphorylase A |
79147 | FKRP | fukutin related protein |
9215 | LARGE1 | LARGE xylosyl- and glucuronyltransferase 1 |
10329 | RXYLT1 | ribitol xylosyltransferase 1 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024