1. Gene
  2. UGT8 - UDP glycosyltransferase 8 Gene

UGT8 - UDP glycosyltransferase 8 Gene

Homo sapiens

Also known as CGT; UGT4

Gene ID: 7368 | Gene type: protein coding

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

UDPGT: UDP-glucoronosyl and UDP-glucosyl transferase (30 - 503)

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  • 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

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