LCT (lactase)

2007-12-01  

Identity

HGNC
LOCATION
2q21.3
LOCUSID
ALIAS
LAC,LPH,LPH1
FUSION GENES

Other Information

Locus ID:

NCBI: 3938
MIM: 603202
HGNC: 6530
Ensembl: ENSG00000115850

Variants:

dbSNP: 3938
ClinVar: 3938
TCGA: ENSG00000115850
COSMIC: LCT

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000115850ENST00000264162P09848
ENSG00000115850ENST00000452974H0Y4E4

Expression (GTEx)

0
1
2

Pathways

PathwaySourceExternal ID
Galactose metabolismKEGGko00052
Galactose metabolismKEGGhsa00052
Metabolic pathwaysKEGGhsa01100
Carbohydrate digestion and absorptionKEGGko04973
Carbohydrate digestion and absorptionKEGGhsa04973
MetabolismREACTOMER-HSA-1430728
Metabolism of carbohydratesREACTOMER-HSA-71387
Digestion of dietary carbohydrateREACTOMER-HSA-189085

References

Pubmed IDYearTitleCitations
171599772007Convergent adaptation of human lactase persistence in Africa and Europe.392
117888282002Identification of a variant associated with adult-type hypolactasia.241
181798852008Independent introduction of two lactase-persistence alleles into human populations reflects different history of adaptation to milk culture.85
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
190345202009Lactose digestion and the evolutionary genetics of lactase persistence.77
129154622003Lactase persistence DNA variant enhances lactase promoter activity in vitro: functional role as a cis regulatory element.61
171200472007A novel polymorphism associated with lactose tolerance in Africa: multiple causes for lactase persistence?61
171200472007A novel polymorphism associated with lactose tolerance in Africa: multiple causes for lactase persistence?61
191747802009Confirmation of multiple Crohn's disease susceptibility loci in a large Dutch-Belgian cohort.52
163012152005T-13910 DNA variant associated with lactase persistence interacts with Oct-1 and stimulates lactase promoter activity in vitro.48

Citation

Dessen P

LCT (lactase)

Atlas Genet Cytogenet Oncol Haematol. 2007-12-01

Online version: http://atlasgeneticsoncology.org/gene/49871/lct