UniProt | Protein Name |
---|---|
Q9Y223 |
|
GO Term | Evidence Code | PMID |
---|---|---|
N-acetylneuraminate biosynthetic process | ||
UDP-N-acetylglucosamine metabolic process | ||
N-acetylglucosamine biosynthetic process | ||
carbohydrate phosphorylation |
GO Term | Evidence Code | PMID |
---|---|---|
UDP-N-acetylglucosamine 2-epimerase activity | ||
metal ion binding | ||
ATP binding | ||
protein binding | ||
N-acylmannosamine kinase activity |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0110277 | autosomal recessive limb-girdle muscular dystrophy type 2C | |
DOID:0110278 | autosomal recessive limb-girdle muscular dystrophy type 2D | |
DOID:0110279 | autosomal recessive limb-girdle muscular dystrophy type 2E | |
DOID:0110280 | autosomal recessive limb-girdle muscular dystrophy type 2F | |
DOID:0110281 | autosomal recessive limb-girdle muscular dystrophy type 2G | |
DOID:0110282 | autosomal recessive limb-girdle muscular dystrophy type 2H | |
DOID:0110283 | autosomal recessive limb-girdle muscular dystrophy type 2J | |
DOID:0110284 | autosomal recessive limb-girdle muscular dystrophy type 2L | |
DOID:0110285 | autosomal recessive limb-girdle muscular dystrophy type 2Q | |
DOID:0110286 | obsolete autosomal recessive limb-girdle muscular dystrophy type 2R |
HPO ID | HPO Term |
---|---|
HP:0000006 | Autosomal dominant inheritance |
HP:0000007 | Autosomal recessive inheritance |
HP:0000023 | Inguinal hernia |
HP:0000158 | Macroglossia |
HP:0000218 | High palate |
HP:0000219 | Thin upper lip vermilion |
HP:0000256 | Macrocephaly |
HP:0000280 | Coarse facial features |
HP:0000286 | Epicanthus |
HP:0000316 | Hypertelorism |
Disease ID | Disease Name |
---|---|
ORPHA:3166 |
|
ORPHA:602 |
|
OMIM:269921 |
|
OMIM:605820 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
103177634 | CALMI13458 | ||
102354276 | LATCH04814 | ||
393857 | ZFIN:ZDB-GENE-040426-1848 | ||
108260684 | ICTPU23578 | ||
106602595 | SALSA24844 | ||
106609886 | SALSA40441 | ||
115191847 | SALTR31466 | ||
115202183 | SALTR16691 | ||
115540831 | GADMO41822 | ||
101166451 | ORYLA19511 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024