UGT8 - UDP glycosyltransferase 8 Gene

Also Known as CGT; UGT4

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 7368

About UGT8

Cytogenetic location: 4q26 Genomic coordinates (GRCh38): 4:114,598,402-114,678,225 (from NCBI)

This gene has 3 transcripts (splice variants), 286 orthologues and 21 paralogues. Biased expression in brain (RPKM 15.7), colon (RPKM 5.2) and 10 other tissues.

Summary

The protein encoded by this gene belongs to the UDP-glycosyltransferase family. It catalyzes the transfer of galactose to ceramide, a key enzymatic step in the biosynthesis of galactocerebrosides, which are abundant sphingolipids of the myelin membrane of the central and peripheral nervous systems. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2011]

UGT8 Products (5)

mRNA	Protein	Name
NM_001128174.3	NP_001121646.2	2-hydroxyacylsphingosine 1-beta-galactosyltransferase precursor
NM_001322112.2	NP_001309041.2	2-hydroxyacylsphingosine 1-beta-galactosyltransferase precursor
NM_001322113.2	NP_001309042.2	2-hydroxyacylsphingosine 1-beta-galactosyltransferase precursor
NM_001322114.2	NP_001309043.2	2-hydroxyacylsphingosine 1-beta-galactosyltransferase precursor
NM_003360.5	NP_003351.3	2-hydroxyacylsphingosine 1-beta-galactosyltransferase precursor

UGT8 Protein Structure

UDPGT

0
100
200
300
400
500
541 a.a.

Protein Preferred Names	Protein Names
2-hydroxyacylsphingosine 1-beta-galactosyltransferase	UDP-galactose-ceramide galactosyltransferase

Related Diseases

Diseases	Alias
Niemann-Pick Disease, Type A	Niemann-Pick Disease Type A Sphingomyelin Lipidosis Sphingomyelinase Deficiency Niemann-Pick Disease, Intermediate, Protracted Neurovisceral Acid Sphingomyelinase Deficiency, Neurovisceral Type Asmd, Neurovisceral Type Infantile Neurovisceral Acid Sphingomyelinase Deficiency Infantile Neurovisceral Asmd Npd-A Niemann-Pick Disease A NPDA Classical Niemann-Pick Disease Niemann-Pick Disease Acute Neuronopathic Form Niemann-Pick Disease Acute Neurovisceral Form Niemann-Pick Disease Classical Infantile Form Niemann-Pick Disease Intermediate Protracted Neurovisceral Niemann-Pick Disease Neuronopathic Type Niemann-Pick Disease Type I Npa Niemann-Pick Diseases
Metachromatic Leukodystrophy	Arylsulfatase A Deficiency MLD Arsa Deficiency Sulfatide Lipidosis Metachromatic Leukoencephalopathy Cerebral Sclerosis, Diffuse, Metachromatic Form Cerebroside Sulfatase Deficiency Leukodystrophy, Metachromatic Pseudoarylsulfatase A Deficiency Leukodystrophy Metachromatic Sulfatidosis Metachromatic Leukodystrophy, Late Infantile Metachromatic Leukodystrophy Variant Deficiency Of Cerebroside-Sulfatase Scholz Cerebral Sclerosis Sulfatide Lipoidosis Cerebral Sclerosis Diffuse Metachromatic Form Arylsulfatase A Deficiency Disease Cerebroside Sulphatase Deficiency Disease Greenfield Disease Metachromatic Leukodystrophy, Adult Metachromatic Leukodystrophy, Juvenile Leukodystrophy Metachromatic Adult Leukodystrophy Metachromatic Juvenile Leukodystrophy Metachromatic Late Infantile Metachromatic Leukodystrophy, Adult Type Metachromatic Leukodystrophy, Juvenile Type Metachromatic Leukodystrophy, Infant Greenfield'S Disease
Niemann-Pick Disease	Sphingomyelin/Cholesterol Lipidosis Niemann-Pick Diseases Lipoid Histiocytosis Sphingomyelin Lipidosis Sphingomyelinase Deficiency Disease Lipid Histiocytosis Neuronal Cholesterol Lipidosis Neuronal Lipidosis Npd Sphingomyelinase Deficiency Niemann-Pick Disease, Type A
Nasal Cavity Squamous Cell Carcinoma	Squamous Cell Carcinoma Of Nasal Cavity Squamous Cell Carcinoma Of The Nasal Cavity
Spastic Paraplegia 46, Autosomal Recessive	SPG46 Hereditary Spastic Paraplegia 46 Autosomal Recessive Spastic Paraplegia Type 46 Autosomal Recessive Spastic Paraplegia 46 Paraplegia, Spastic, Type 46, Autosomal Recessive
Oligodendroglioma	Oligodendroglial Neoplasm Oligodendroglial Tumor Oligodendroglial Tumors Well Differentiated Oligodendroglioma
Pentosuria	Xylitol Dehydrogenase Deficiency L-Xylulosuria L-Xylulose Reductase Deficiency Essential Pentosuria PNTSU Essential Benign Pentosuria
Krabbe Disease	Globoid Cell Leukodystrophy Galactosylceramide Beta-Galactosidase Deficiency Galc Deficiency Galactocerebrosidase Deficiency GLD Globoid Cell Leukoencephalopathy Diffuse Globoid Body Sclerosis Gcl Leukodystrophy, Globoid Cell Krabbe'S Leukodystrophy Krabbe Leukodystrophy KRB Beta Galactocerebrosidase Deficiency Krabbe'S Disease Galactosylceramidase Deficiency Disease Galactosylceramide Lipidosis Galactosylcerebrosidase Deficiency Galactosylsphingosine Lipidosis Psychosine Lipidosis Galactosylceramidase Deficiency Infantile Globoid Cell Leukodystrophy Krabbe Brain Sclerosis
Leukodystrophy	Leukodystrophies
Alcohol Dependence	Alcoholism Alcohol Dependence, Susceptibility To Alcohol Dependence, Protection Against Aerodigestive Tract Cancer, Squamous Cell, Alcohol-Related, Protection Against Alcoholism, Susceptibility To Alcoholic Intoxication, Chronic Pharyngeal Neoplasms Chronic Alcoholism Dipsomania Alcohol Addiction Ethanol Dependence Chronic Ethanolism Chronic Alcoholic Disease Nos Alcoholic Disease Nos Alcoholic
Familial Thyroid Dyshormonogenesis	Thyroid Dyshormonogenesis Familial Dyshormonogenetic Goiter
Crigler-Najjar Syndrome, Type I	Crigler-Najjar Syndrome Crigler-Najjar Syndrome Type 1 Bilirubin Udp Glucuronyl Transferase Deficiency Crigler Najjar Syndrome Crigler Najjar Syndrome, Type 1 Bilirubin Uridinediphosphate Glucuronosyltransferase Deficiency Bilirubin-Ugt Deficiency Hyperbilirubinemia, Crigler-Najjar Type I Hblrcn1 Familial Nonhemolytic Unconjugated Hyperbilirubinemia Hereditary Unconjugated Hyperbilirubinemia Bilirubin Uridinediphosphate Glucuronosyltransferase Deficiency Type 1 Bilirubin-Ugt Deficiency Type 1 Crigler-Najjar Syndrome 1 CN1 Cn-I Crigler-Najjar Syndrome Type I Hereditary Unconjugated Hyperbilirubinaemia Ugt Deficiency Bilirubin Glucuronosyltransferase Deficiency Crigler-Najjar Disease Or Syndrome Deficiency Of Glucuronosyltransferase Glucuronyl Transferase Deficiency Glucuronyltransferase Deficiency Udp Glucuronyl Transferase Deficiency Cns - [Crigler-Najjar Syndrome] Congenital Familial Nonhemolytic Jaundice
Gilbert Syndrome	Gilbert Disease Gilbert'S Disease Gilbert'S Syndrome Cholemia, Familial Familial Nonhemolytic Jaundice Meulengracht Syndrome Gilbert Syndrome, Susceptibility To Hyperbilirubinemia, Gilbert Type Hblrg Hyperbilirubinemia, Arias Type Hyperbilirubinemia I Constitutional Hyperbilirubinemia Gilbert-Meulengracht Syndrome Hereditary Nonhemolytic Jaundice Hyperbilirubinemia Arias Type Hyperbilirubinemia Type 1 Constitutional Liver Dysfunction Gilbert-Lereboullet Syndrome Hyperbilirubinemia 1 Unconjugated Benign Bilirubinemia GILBS Gilberts Syndrome Familial Nonhaemolytic Jaundice Constitutional Hyperbilirubinaemia Hereditary Nonhaemolytic Bilirubinaemia Familial Nonhaemolytic Bilirubinaemia Idiopathic Hyperbilirubinaemia Icterus Intermittens Juvenilis Chronic Intermittent Juvenile Jaundice Low-Grade Chronic Hyperbilirubinaemia Syndrome Benign Unconjugated Bilirubinaemia Syndrome Hereditary Nonhaemolytic Jaundice Idiopathic Unconjugated Hyperbilirubinaemia Gilbert--Lereboullet Syndrome Constitutional Hepatic Dysfunction Meulengracht Icterus Cholaemia Familiaris Simplex Familial Cholaemia Congenital Familial Cholaemia Physiologic Cholaemia Hyperbilirubinaemia Type 1 Gilbert Cholaemia

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 (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-131703	UGT8-IN-1	Inhibitor	99.94%	Unkown
HY-RS15443	UGT8 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	UGT8	VGNC	VGNC:80102
Canis familiaris	UGT8	VGNC	VGNC:48121
Macaca mulatta	UGT8	VGNC	VGNC:81600
Mus musculus	UGT8	MGD	MGI:109522
Rattus norvegicus	UGT8	RGD	RGD:3938
Bos taurus	UGT8	VGNC	VGNC:36652
Others	UGT8	NCBI