Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
2135 | EXTL2 | exostosin like glycosyltransferase 2 | |
2137 | EXTL3 | exostosin like glycosyltransferase 3 | |
2799 | GNS | glucosamine (N-acetyl)-6-sulfatase | |
4669 | NAGLU | N-acetyl-alpha-glucosaminidase | |
6448 | SGSH | N-sulfoglucosamine sulfohydrolase | |
138050 | HGSNAT | heparan-alpha-glucosaminide N-acetyltransferase |
UniProt ID | Protein Name | Source |
---|---|---|
O43909 | Exostosin-like 3 | |
P15586 | N-acetylglucosamine-6-sulfatase | |
P51688 | N-sulphoglucosamine sulphohydrolase | |
P54802 | Alpha-N-acetylglucosaminidase | |
Q68CP4 | Heparan-alpha-glucosaminide N-acetyltransferase | |
Q9UBQ6 | Exostosin-like 2 |
HPO ID | HPO Term |
---|---|
HP:0001263 | Global developmental delay |
HP:0003309 | Ovoid thoracolumbar vertebrae |
HP:0000664 | Synophrys |
HP:0002159 | Heparan sulfate excretion in urine |
HP:0000268 | Dolichocephaly |
HP:0002360 | Sleep abnormality |
HP:0000998 | Hypertrichosis |
HP:0011463 | Childhood onset |
HP:0001670 | Asymmetric septal hypertrophy |
HP:0000232 | Everted lower lip vermilion |
GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.
Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024