mannosidase alpha class 2C member 1
| UniProt | Protein Name |
|---|---|
| A0A140VJN9 |
|
| Q9NTJ4 |
|
| GO Term | Evidence Code | PMID |
|---|---|---|
| mannose metabolic process | ||
| oligosaccharide catabolic process |
| GO Term | Evidence Code | PMID |
|---|---|---|
| nucleoplasm | ||
| cytosol |
| GO Term | Evidence Code | PMID |
|---|---|---|
| alpha-mannosidase activity | ||
| carbohydrate binding | ||
| metal ion binding |
| Gene Ontology |
|---|
| alpha-mannosidase activity |
| catalytic activity |
| hydrolase activity, acting on glycosyl bonds |
| mannose metabolic process |
| metal ion binding |
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0060990 | congenital disorder of deglycosylation 2 |
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000158 | Macroglossia |
| HP:0000218 | High palate |
| HP:0000256 | Macrocephaly |
| HP:0000316 | Hypertelorism |
| HP:0000324 | Facial asymmetry |
| HP:0000347 | Micrognathia |
| HP:0000348 | High forehead |
| HP:0000365 | Hearing impairment |
| HP:0000480 | Retinal coloboma |
| Disease ID | Disease Name |
|---|---|
| OMIM:619775 |
|
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
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Last updated: December 8, 2025