Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
4125 | MAN2B1 | mannosidase alpha class 2B member 1 | |
4669 | NAGLU | N-acetyl-alpha-glucosaminidase | |
4758 | NEU1 | neuraminidase 1 | |
5476 | CTSA | cathepsin A | |
6448 | SGSH | N-sulfoglucosamine sulfohydrolase | |
10020 | GNE | glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | |
79158 | GNPTAB | N-acetylglucosamine-1-phosphate transferase subunits alpha and beta | |
84572 | GNPTG | N-acetylglucosamine-1-phosphate transferase subunit gamma | |
138050 | HGSNAT | heparan-alpha-glucosaminide N-acetyltransferase | |
285362 | SUMF1 | sulfatase modifying factor 1 |
UniProt ID | Protein Name | Source |
---|---|---|
O00754 | Lysosomal alpha-mannosidase | |
P04040 | Catalase | |
P04066 | Tissue alpha-L-fucosidase | |
P08236 | Beta-glucuronidase | |
P10619 | Lysosomal protective protein | |
P15586 | N-acetylglucosamine-6-sulfatase | |
P15848 | Arylsulfatase B | |
P16278 | Beta-galactosidase | |
P19526 | Galactoside alpha-(1,2)-fucosyltransferase 1 | |
P20933 | N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase |
HPO ID | HPO Term |
---|---|
HP:0001249 | Intellectual disability |
HP:0001252 | Hypotonia |
HP:0001263 | Global developmental delay |
HP:0001376 | Limitation of joint mobility |
HP:0001510 | Growth delay |
HP:0001522 | Death in infancy |
HP:0001638 | Cardiomyopathy |
HP:0001654 | Abnormal heart valve morphology |
HP:0001681 | Angina pectoris |
HP:0001706 | Endocardial fibroelastosis |
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