LCT - lactase Gene

Also Known as LAC; LPH; LPH1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 3938

About LCT

Cytogenetic location: 2q21.3 Genomic coordinates (GRCh38): 2:135,787,850-135,837,184 (from NCBI)

This gene has 2 transcripts (splice variants), 278 orthologues, 4 paralogues and is associated with 3 phenotypes. Biased expression in duodenum (RPKM 121.7) and small intestine (RPKM 73.8).

Summary

The protein encoded by this gene belongs to the glycosyl hydrolase 1 family of proteins. The encoded preproprotein is proteolytically processed to generate the mature enzyme. This enzyme is integral to the plasma membrane and has both phlorizin hydrolase activity and lactase activity. Mutations in this gene are associated with congenital lactase deficiency. Polymorphisms in this gene are associated with lactase persistence, in which intestinal lactase activity persists at childhood levels into adulthood. [provided by RefSeq, Jan 2016]

LCT Products (1)

mRNA	Protein	Name
NM_002299.4	NP_002290.2	lactase/phlorizin hydrolase preproprotein

LCT Protein Structure

Glyco_hydro_1

0
300
600
900
1200
1500
1800
1927 a.a.

Protein Preferred Names	Protein Names
lactase/phlorizin hydrolase lactase-phlorizin hydrolase	lactase-glycosylceramidase

Protein Preferred Names

Protein Names

lactase/phlorizin hydrolase

lactase-phlorizin hydrolase

lactase-glycosylceramidase

Related Diseases

Diseases	Alias
Lactase Deficiency, Congenital	Congenital Lactase Deficiency Disaccharide Intolerance Ii Congenital Alactasia Congenital Alactasia Syndrome Congenital Lactose Intolerance Congenital Lactose Malabsorption Hereditary Alactasia Alactasia, Congenital Cld COLACD Disaccharide Intolerance Type 2 Cld - [Congenital Lactase Deficiency] Disaccharide Intolerance 2 Lactose Intolerance Of Newborn Hereditary Lactase Deficiency
Lactose Intolerance	Lactose Malabsorption Lm - Lactose Malabsorption Alactasia Dairy Product Intolerance Hypolactasia Milk Sugar Intolerance Cow Milk Enteropathy Intolerance Or Malabsorption Of Lactose Lm - [Lactose Malabsorption] Milk Intolerance
Lactose Intolerance, Adult Type	Hypolactasia, Adult Type Adult Lactase Deficiency Disaccharide Intolerance Iii Lactase Persistence/Nonpersistence Lactose Intolerance Adult Type
Osmotic Diarrhea
Sucrase-Isomaltase Deficiency, Congenital	Congenital Sucrase-Isomaltase Deficiency CSID Si Deficiency Congenital Sucrose Intolerance Disaccharide Intolerance Sucrase-Isomaltase Deficiency Disaccharide Intolerance I Congenital Sucrose-Isomaltose Malabsorption Sucrose-Isomaltose Malabsorption, Congenital Sucrose Intolerance, Congenital Congenital Sucrase-Isomaltose Malabsorption Congenital Sucrose-Isomaltase Malabsorption Disaccharide Intolerance, 1 Sucrose Intolerance Congenital Sucrose-Isomaltase Malabsorption, Congenital Disaccharidase Deficiency Invertase Deficiency Sucrase-Alpha-Dextrinase Deficiency Disaccharide Intolerance Type I Csid - [Congenital Sucrase-Isomaltase Deficiency] Sucrose Intolerance Of Newborn Sucrose Intolerance Sucrase Deficiency Disaccharide Malabsorption Intestinal Disaccharidase Deficiency
Galactosemia I	Galactosemia Galt Deficiency Classic Galactosemia Galactose-1-Phosphate Uridylyltransferase Deficiency Galactose-1-Phosphate Uridyltransferase Deficiency GALAC1 Galactosemia, Classic Galactosemia Type 1 Galactosemias Classical Galactosemia Galactosaemia Galactose Intolerance Epimerase Deficiency Galactosemia Galactokinase Deficiency Disease Galactose Epimerase Deficiency Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease Gale Deficiency Galk Deficiency Udp-Galactose-4-Epimerase Deficiency Disease Utp Hexose-1-Phosphate Uridylyltransferase Deficiency Galactosemia 1 Galactosemia, Duarte Variant Deficiency Of Galactokinase Udpglucose 4-Epimerase Deficiency Disease Classical Galactosaemia Galput Deficiency - [Galactose-4-Phosphate Uridyltransferase] Deficiency Classic Galactosaemia Deficiency Of Hexose-1-Phosphate Uridylyltransferase Deficiency Of Udpglucose-Hexose-1-Phosphate Uridylyltransferase Deficiency Of Galactose-1-Phosphate Uridylyltransferase Galactose-1-Phosphate Uridyl Transferase Deficiency Transferase Deficiency Galactosemia Deficiency Of Uridyl Transferase Deficiency Of Utp-Hexose-1-Phosphate Uridylyltransferase Utp-Hexose-1-Phosphate Uridyltransferase Deficiency
Irritable Bowel Syndrome	Irritable Colon Psychogenic Ibs Ibs - [Irritable Bowel Syndrome] Spastic Bowel Syndrome
Bacterial Esophagitis
Peptic Esophagitis	Reflux Esophagitis Peptic Reflux Disease Reflux Oesophagitis Esophagitis, Peptic Gastro-Esophageal Reflux Disease With Esophagitis
Anaerobic Meningitis
Outlet Dysfunction Constipation
Chylomicron Retention Disease	CMRD Anderson Disease Lipid Transport Defect Of Intestine Hypobetalipoproteinemia With Accumulation Of Apolipoprotein B-Like Protein In Intestinal Cells Andd Anderson Syndrome Crd Andersons Disease Malabsorption Syndrome
Hernia, Hiatus	Hiatal Hernia Hiatus Hernia Diaphragmatic - Hiatus -Hernia Hernia, Hiatal
Tropical Sprue	Tropical Steatorrhea Tropical Enteropathy Sprue, Tropical Sprue - Tropical Idiopathic Tropical Malabsorption Syndrome Tropical Steatorrhoea Tropical Diarrhoea Ts - [Tropical Sprue] Psilosis Sprue Nos
Bronchiectasis 3
Gluten Allergy	Allergy To Gluten Gluten Allergic Reaction
Diarrhea	Diarrhoea Diarrhea Of Presumed Infectious Origin
Giardiasis	Beaver Feaver Infection By Giardia Lamblia Lambliasis Giardia Lamblia Dysentery Giardial Diarrhoea Lamblia Dysentery Giardia Duodenalis Dysentery Giardia Intestinalis Dysentery
Neural Tube Defects	Spina Bifida Neural Tube Defect NTD Neural Tube Defects, Susceptibility To Spinal Dysraphism Spina Bifida, Susceptibility To Rachischisis Cleft Spine Open Spine Hydrocele Spinalis Neural Tube Defect Nos Sb - [Spina Bifida] Spinal Hernia Nos Spinal Fissure Nos
Anemia, Nonspherocytic Hemolytic, Due To G6pd Deficiency	Favism Favism, Susceptibility To Hemolytic Anemia, G6pd Deficient Class I Glucose-6-Phosphate Dehydrogenase Deficiency Class I G6pd Deficiency Severe Hemolytic Anemia Due To G6pd Deficiency Anemia, Non-Spherocytic Hemolytic, Due To G6pd Deficiency NSHA G6pd Deficient Hemolytic Anemia
Osteoporosis	Postmenopausal Osteoporosis Osteoporosis, Postmenopausal Bone Mineral Density Quantitative Trait Locus Bmnd Osteoporosis, Involutional Osteoporosis, Susceptibility To Osteoporosis, Postmenopausal, Susceptibility Bone Mineral Density Variation Qtl, Osteoporosis OSTEOP Involutional Osteoporosis Senile Osteoporosis Osteoporosis Postmenopausal Bone Mineral Density, Quantitative Trait Locus Osteoporosis, Senile Idiopathic Osteoporosis Bone Rarefaction Nos Type 1 Osteoporosis
Glucosephosphate Dehydrogenase Deficiency	G6pd Deficiency Glucose-6-Phosphate Dehydrogenase Deficiency Deficiency Of Glucose-6-Phosphate Dehydrogenase Glucose 6 Phosphate Dehydrogenase Deficiency Deficiency Of G-6pd G6pdd
Celiac Disease 1	Celiac Disease Coeliac Disease Celiac Sprue Celiac Disease, Susceptibility To Gluten-Sensitive Enteropathy Nontropical Sprue Sprue CELIAC1 Celiac Disease, Susceptibility To, 1 Celiac Sprue 1 Celiac Sprue, Susceptibility To, 1 Gluten-Sensitive Enteropathy 1 Gluten-Sensitive Enteropathy, Susceptibility To, 1 Idiopathic Steatorrhea Cœliac Disease Gluten Intolerance Gluten-Induced Enteropathy Gluten Enteropathy Celiac Disease, Susceptibility To, Type 1 Childhood Celiac Disease Coeliac Rickets Gee Disease Gee-Herter Disease Heubner-Herter Disease Idiopathic Steatorrhoea Thaysen'S Disease Herter Gee Syndrome

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-D3009	LCE1		/	Unkown
HY-RS07565	LCT Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19864	Lct Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26363	Lct Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	LCT	VGNC	VGNC:42616
Macaca mulatta	LCT	VGNC	VGNC:74244
Felis catus	LCT	VGNC	VGNC:68026
Mus musculus	LCT	MGD	MGI:104576
Bos taurus	LCT	VGNC	VGNC:30819
Rattus norvegicus	LCT	RGD	RGD:620823
Others	LCT	NCBI