Please wait while page loads....
Details of GALNS gene in Homo sapiens
IDs |
|---|
| Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
|
| GALNS | --- | P34059 | GALNS_HUMAN | 2588
| ENSG00000141012
| N-acetylgalactosamine-6-sulfatase | SPROT |
Disease |
|---|
| Disease |
OMIM id |
| Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]: A form of mucopolysaccharidosis type 4, an autosomal recessive lysosomal storage disease characterized by intracellular accumulation of keratan sulfate and chondroitin-6-sulfate. Key clinical features include short stature, skeletal dysplasia, dental anomalies, and corneal clouding. Intelligence is normal and there is no direct central nervous system involvement, although the skeletal changes may result in neurologic complications. There is variable severity, but patients with the severe phenotype usually do not survive past the second or third decade of life. Note=The disease is caused by mutations affecting the gene represented in this entry. |
253000 |
Orthologs in other species |
|---|
| M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
| Galns | --- | --- | Sp-Galns |
