Statements (18)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
biotin protein ligase
|
| gptkbp:associatedWith |
holocarboxylase synthetase deficiency
|
| gptkbp:encodes |
holocarboxylase synthetase enzyme
|
| gptkbp:Entrez_Gene_ID |
3141
|
| gptkbp:enzymeCommissionNumber |
6.3.4.10
|
| gptkbp:expressedIn |
various human tissues
|
| gptkbp:fullName |
holocarboxylase synthetase
|
| gptkbp:function |
biotin attachment to carboxylases
|
| gptkbp:HGNC_ID |
4976
|
| https://www.w3.org/2000/01/rdf-schema#label |
HLCS
|
| gptkbp:locatedOnChromosome |
21q22.1
|
| gptkbp:mutationAssociatedWith |
multiple carboxylase deficiency
|
| gptkbp:OMIM |
609018
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:UniProtID |
P50747
|
| gptkbp:bfsParent |
gptkb:human_chromosome_21
|
| gptkbp:bfsLayer |
7
|