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Details of COG1 gene in Homo sapiens
IDs |
Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
| COG1 | KIAA1381 | LDLB | Q8WTW3 | COG1_HUMAN | Q9P2G6 | --- | such as defects in |
Disease |
Disease |
OMIM id |
Congenital disorder of glycosylation 2G (CDG2G) [MIM:611209]: A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features |
psychomotor retardation |
Orthologs in other species |
M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
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