Statements (23)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:gene
|
gptkbp:alternativeName |
PA-PLA1alpha
phosphatidic acid-selective phospholipase A1 |
gptkbp:associatedWith |
autosomal recessive hypotrichosis
woolly hair |
gptkbp:discoveredIn |
2002
|
gptkbp:encodes |
lipase H protein
|
gptkbp:Entrez_Gene_ID |
55120
|
gptkbp:expressedIn |
hair follicle
|
gptkbp:fullName |
lipase H gene
|
gptkbp:function |
hydrolyzes phosphatidic acid to produce lysophosphatidic acid (LPA)
|
gptkbp:geneType |
protein-coding
|
https://www.w3.org/2000/01/rdf-schema#label |
LIPH gene
|
gptkbp:locatedOnChromosome |
3q27-q28
|
gptkbp:mutationAssociatedWith |
causes hair growth disorders
|
gptkbp:OMIM |
607365
|
gptkbp:organism |
gptkb:Homo_sapiens
|
gptkbp:orthologInMouse |
Liph
|
gptkbp:pathway |
lipid metabolism
|
gptkbp:proteinFamily |
phospholipase A1 family
|
gptkbp:UniProtID |
Q6NT55
|
gptkbp:bfsParent |
gptkb:lipase_H
|
gptkbp:bfsLayer |
8
|