Statements (27)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
gptkb:SIMPLE
PIG7 |
| gptkbp:associatedWith |
Charcot-Marie-Tooth disease type 1C
|
| gptkbp:chromosomeArm |
gptkb:16p13.13
|
| gptkbp:discoveredBy |
1999
|
| gptkbp:encodes |
LITAF protein
|
| gptkbp:Entrez_Gene_ID |
gptkb:ENSG00000136104
9516 |
| gptkbp:expressedIn |
immune cells
|
| gptkbp:fullName |
Lipopolysaccharide-induced tumor necrosis factor-alpha factor
|
| gptkbp:function |
endosomal trafficking
regulation of tumor necrosis factor-alpha (TNF-α) production |
| gptkbp:HGNC_ID |
HGNC:6616
|
| https://www.w3.org/2000/01/rdf-schema#label |
LITAF
|
| gptkbp:locatedOnChromosome |
16
|
| gptkbp:location |
gptkb:endosome
gptkb:cytoplasm |
| gptkbp:mutationAssociatedWith |
peripheral neuropathy
|
| gptkbp:OMIM |
603795
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
Litaf
|
| gptkbp:proteinFamily |
LITAF domain-containing proteins
|
| gptkbp:regulates |
inflammatory response
|
| gptkbp:UniProtID |
Q99732
|
| gptkbp:bfsParent |
gptkb:CMT1
|
| gptkbp:bfsLayer |
7
|