GDP-mannose pyrophosphorylase B
| UniProt | Protein Name |
|---|---|
| Q9Y5P6 |
|
| GO Term | Evidence Code | PMID |
|---|---|---|
| protein glycosylation | ||
| GDP-mannose biosynthetic process | ||
| GDP-mannose biosynthetic process | ||
| GDP-mannose biosynthetic process | ||
| GDP-mannose metabolic process |
| GO Term | Evidence Code | PMID |
|---|---|---|
| mannose-1-phosphate guanylyltransferase (GTP) activity | ||
| mannose-1-phosphate guanylyltransferase (GTP) activity | ||
| mannose-1-phosphate guanylyltransferase (GTP) activity | ||
| protein binding | ||
| GTP binding |
| Gene Ontology |
|---|
| GDP-mannose biosynthetic process |
| GTP binding |
| mannose-1-phosphate guanylyltransferase (GTP) activity |
| transferase activity |
| InterPro |
|---|
| Hexapeptide repeat |
| Hexapeptide transferase, conserved site |
| Nucleotide-diphospho-sugar transferases |
| Nucleotidyl transferase domain |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0110294 | autosomal recessive limb-girdle muscular dystrophy type 2T | |
| DOID:0111233 | congenital muscular dystrophy-dystroglycanopathy type A14 | |
| DOID:0112374 | muscular dystrophy-dystroglycanopathy | |
| DOID:0112377 | muscular dystrophy-dystroglycanopathy type B14 |
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000028 | Cryptorchidism |
| HP:0000054 | Micropenis |
| HP:0000158 | Macroglossia |
| HP:0000175 | Cleft palate |
| HP:0000218 | High palate |
| HP:0000238 | Hydrocephalus |
| HP:0000252 | Microcephaly |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000467 | Neck muscle weakness |
| Disease ID | Disease Name |
|---|---|
| ORPHA:370959 |
|
| ORPHA:353327 |
|
| OMIM:615352 |
|
| OMIM:615351 |
|
| ORPHA:363623 |
|
| OMIM:615350 |
|
| ORPHA:588 |
|
| ORPHA:370968 |
|
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
This work is licensed under Creative Commons Attribution 4.0 International
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Last updated: December 8, 2025