1. Gene
  2. LCT - lactase Gene

LCT - lactase Gene

中文名称:乳糖酶

种属: Homo sapiens

同用名: LAC; LPH; LPH1

基因 ID: 3938 | 基因类型: protein coding

关于 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).

功能概要

该基因编码的蛋白质属于糖基水解酶 1 蛋白家族。编码的前原蛋白经过蛋白水解处理以产生成熟酶。这种酶是质膜不可或缺的一部分,具有根皮苷水解酶活性和乳糖酶活性。该基因的突变与先天性乳糖酶缺乏症有关。该基因的多态性与乳糖酶持久性相关,其中肠道乳糖酶活性在儿童时期一直持续到成年期。[RefSeq 提供,2016 年 1 月]

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 基因产物(1)

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

LCT 蛋白结构

Glyco_hydro_1

Glyco_hydro_1: Glycosyl hydrolase family 1 (83 - 209)

Glyco_hydro_1

Glyco_hydro_1: Glycosyl hydrolase family 1 (379 - 847)

Glyco_hydro_1

Glyco_hydro_1: Glycosyl hydrolase family 1 (900 - 1363)

Glyco_hydro_1

Glyco_hydro_1: Glycosyl hydrolase family 1 (1375 - 1840)

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  • 1927 a.a.
蛋白主名 其他名称

lactase/phlorizin hydrolase

lactase-phlorizin hydrolase

lactase-glycosylceramidase

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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