Statements (28)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeSplicing |
yes
|
| gptkbp:associatedWith |
gptkb:lactose_intolerance
lactase persistence |
| gptkbp:clinicalTrialPhase |
yes
|
| gptkbp:discoveredBy |
various researchers
|
| gptkbp:encodes |
gptkb:lactase
|
| gptkbp:Entrez_Gene_ID |
3938
ENSG00000115850 |
| gptkbp:expressedIn |
gptkb:small_intestine
|
| gptkbp:firstDescribed |
1960s
|
| gptkbp:function |
hydrolyzes lactose into glucose and galactose
|
| gptkbp:HGNC_ID |
HGNC:6547
|
| https://www.w3.org/2000/01/rdf-schema#label |
LCT gene
|
| gptkbp:length |
1927 amino acids
|
| gptkbp:locatedOnChromosome |
chromosome 2
2q21 |
| gptkbp:mutationAssociatedWith |
can cause primary adult-type hypolactasia
|
| gptkbp:OMIM |
603202
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
gptkb:Lct
|
| gptkbp:product |
gptkb:lactase-phlorizin_hydrolase
|
| gptkbp:proteinFamily |
glycoside hydrolase family 1
|
| gptkbp:referenceGenome |
gptkb:GRCh38
|
| gptkbp:regulates |
MCM6 gene region
|
| gptkbp:UniProtID |
P09848
|
| gptkbp:bfsParent |
gptkb:lactase
|
| gptkbp:bfsLayer |
6
|