Literature summary for 3.2.1.62 extracted from

Koek, W.; van Meurs, J.; van der Eerden, B.; Rivadeneira, F.; Zillikens, M.; Hofman, A.; Obermayer-Pietsch, B.; Lips, P.; Pols, H.; Uitterlinden, A.; van Leeuwen, J.
The T-13910C polymorphism in the lactase phlorizin hydrolase gene is associated with differences in serum calcium levels and calcium intake (2010), J. Bone Miner. Res., 25, 1980-1987.

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Cloned(Commentary)

Cloned (Comment)	Organism
genotyping	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
additional information	the naturally occurring polymorphism T13910C, i.e. rs4988235, causes lactose intolerance in the C-variant, associated with lower dietary calcium intake and serum calcium levels but not with BMD or fractures. Genotyping and phenotype, overview. The polymorphism is not associated with the genetic variations in the VDR gene, and no interactions between the two genotypes	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

Synonyms

Synonyms	Comment	Organism
lactase phlorizin hydrolase	-	Homo sapiens
LPH	-	Homo sapiens

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Release 2023.1 (January 2023)