Statements (18)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:gene
|
gptkbp:alternativeName |
gptkb:TRAPD
|
gptkbp:associatedWith |
gptkb:congenital_disorder_of_glycosylation_type_Iy
|
gptkbp:component |
gptkb:translocon-associated_protein_complex_(TRAP)
|
gptkbp:encodes |
gptkb:translocon-associated_protein_subunit_delta
|
gptkbp:Entrez_Gene_ID |
6747
|
gptkbp:expressedIn |
various tissues
|
gptkbp:function |
involved in protein translocation across the endoplasmic reticulum membrane
|
https://www.w3.org/2000/01/rdf-schema#label |
SSR4 gene
|
gptkbp:locatedOnChromosome |
gptkb:X_chromosome
gptkb:Xp11.23 |
gptkbp:mutationAssociatedWith |
intellectual disability
developmental delay |
gptkbp:OMIM |
300934
|
gptkbp:organism |
gptkb:Homo_sapiens
|
gptkbp:UniProtID |
gptkb:P51572
|
gptkbp:bfsParent |
gptkb:Translocon-associated_protein
|
gptkbp:bfsLayer |
7
|