GALT - galactose-1-phosphate uridylyltransferase Gene

Homo sapiens

Gene ID: 2592 | Gene type: protein coding

About GALT

Cytogenetic location: 9p13.3 Genomic coordinates (GRCh38): 9:34,646,675-34,651,035 (from NCBI)

This gene has 29 transcripts (splice variants), 168 orthologues and is associated with 3 phenotypes. Ubiquitous expression in duodenum (RPKM 23.8), liver (RPKM 21.4) and 25 other tissues.

Summary

Galactose-1-phosphate uridyl transferase (GALT) catalyzes the second step of the Leloir pathway of galactose metabolism, namely the conversion of UDP-glucose + galactose-1-phosphate to glucose-1-phosphate + UDP-galactose. The absence of this Enzyme results in classic galactosemia in humans and can be fatal in the newborn period if lactose is not removed from the diet. The pathophysiology of galactosemia has not been clearly defined. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]

GALT Products(2)

mRNA	Protein	Name
NM_000155.4	NP_000146.2	galactose-1-phosphate uridylyltransferase isoform 1
NM_001258332.2	NP_001245261.1	galactose-1-phosphate uridylyltransferase isoform 2

GALT Protein Structure

GalP_UDP_transf

GalP_UDP_tr_C

0
100
200
300
379 a.a.

Protein Preferred Names

Protein Names

galactose-1-phosphate uridylyltransferase

UDP-glucose--hexose-1-phosphate uridylyltransferase

Related Diseases

Diseases

Alias

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

Premature Menopause

Primary Ovarian Insufficiency	Premature Ovarian Failure
Hypergonadotropic Hypogonadism	Premature Ovarian Insufficiency
Menopause - Premature	Menopause Praecox
Menopause Premature	Menopause, Premature
Female Hypergonadotropic Hypogonadism	Hypergonadotrophic Ovarian Failure
Primary Female Hypogonadism	Pof - [Premature Ovarian Failure]
Ovarian Failure	Ovarian Secretion Suppression
Ovary Hyposecretion	Ovary Secretion Deficiency
Premature Menopause Nos

Galactosemia Ii

Galactokinase Deficiency	Galk Deficiency
Galactokinase Deficiency With Cataracts	Deficiency Of Galactokinase
GALAC2	Galk-D
Galactokinase Deficiency Galactosemia	Galactosemia 2
Galactosemia Type 2	Hereditary Galactokinase Deficiency
Galactokinase Deficiency, Cataract	Galactosemias
Galk - [Galactokinase Deficiency]

Galactosemia Iii

Galactose Epimerase Deficiency	Gale Deficiency
Udp-Galactose-4-Epimerase Deficiency	Epimerase Deficiency Galactosemia
Galactosemia Type 3	Gale-D
Uridine Diphosphate Galactose-4-Epimerase Deficiency	GALAC3
Galactosemia 3	Generalized Uridine Diphosphate Galactose-4-Epimerase Deficiency
Erythrocyte Uridine Diphosphate Galactose-4-Epimerase Deficiency	Galactosemia Type Iii
Udp-Galactose-4'-Epimerase Deficiency	Generalized Galactose Epimerase Deficiency
Generalized Gale Deficiency	Generalized Gale-D
Generalized Udp-Galactose-4-Epimerase Deficiency	Generalized Epimerase Deficiency Galactosemia
Erythrocyte Galactose Epimerase Deficiency	Erythrocyte Gale Deficiency
Erythrocyte Gale-D	Erythrocyte Udp-Galactose-4-Epimerase Deficiency
Erythrocyte Epimerase Deficiency Galactosemia	Galactosemias
Classical Galactosemia	Udpglucose 4-Epimerase Deficiency Disease

Cataract

Cataracts	Cat - [Cataract]
Cataract Form	Lens Opacity
Lens Opacities

Lens Subluxation

Subluxation Of Lens

Ovarian Disease

Ovarian Dysfunction	Ovarian Diseases
Ovarian Disorders	Disorder Of Endocrine Ovary

Premature Ovarian Failure 1

Ovarian Failure, Premature	Fmr1-Related Primary Ovarian Insufficiency
Fragile X-Associated Primary Ovarian Insufficiency	POF1
Pofx	Hypergonadotropic Ovarian Failure, X-Linked
Pof	Primary Ovarian Insufficiency, Fragile X-Associated
Primary Ovarian Insufficiency 1	Ovarian Failure Premature
Premature Ovarian Failure, X-Linked	Fragile X Premature Ovarian Failure
Fmr1-Related Premature Ovarian Failure	Familial Premature Ovarian Failure
Idiopathic Familial Premature Ovarian Failure	Fxpoi
X-Linked Hypergonadotropic Ovarian Failure	Hypergonadotropic Ovarian Failure X-Linked
Poi	Premature Ovarian Failure X-Linked
Primary Ovarian Insufficiency	Premature Ovarian Failure-1
Ovarian Failure, Premature, Type 1	Premature Ovarian Failure, Familial
Premature Menopause	Primary Hypogonadism
Turner Syndrome

Hypotonia

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

Bioactive Molecules (23)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-114364	UDP-Galactose disodium	Agonist	99.42%	Unkown
HY-E70046	β-1,4-Galactosyltransferase, neisseria meningitides		90.00%	Unkown
HY-E70047	alpha-1,4-Galactosyltransferase (LgtC)		/	Unkown
HY-E70052	alpha-1,3-Galactosyltransferase (a1,3GalT)		/	Unkown
HY-RS00012	A3GALT2 Human Pre-designed siRNA Set A		/	Unkown
HY-RS00013	A4GALT Human Pre-designed siRNA Set A		/	Unkown
HY-RS01302	B3GALT1 Human Pre-designed siRNA Set A		/	Unkown
HY-RS01303	B3GALT2 Human Pre-designed siRNA Set A		/	Unkown
HY-RS01304	B3GALT4 Human Pre-designed siRNA Set A		/	Unkown
HY-RS01305	B3GALT5 Human Pre-designed siRNA Set A		/	Unkown
HY-RS01306	B3GALT6 Human Pre-designed siRNA Set A		/	Unkown
HY-RS01319	B4GALT1 Human Pre-designed siRNA Set A		/	Unkown
HY-RS01320	B4GALT2 Human Pre-designed siRNA Set A		/	Unkown
HY-RS01321	B4GALT3 Human Pre-designed siRNA Set A		/	Unkown
HY-RS01322	B4GALT4 Human Pre-designed siRNA Set A		/	Unkown
HY-RS01323	B4GALT5 Human Pre-designed siRNA Set A		/	Unkown
HY-RS01324	B4GALT6 Human Pre-designed siRNA Set A		/	Unkown
HY-RS01325	B4GALT7 Human Pre-designed siRNA Set A		/	Unkown
HY-RS01707	C1GALT1 Human Pre-designed siRNA Set A		/	Unkown
HY-RS01708	C1GALT1C1 Human Pre-designed siRNA Set A		/	Unkown
HY-RS05267	GALT Human Pre-designed siRNA Set A		/	Unkown
HY-E70285	beta-1,4-Galactosyltransferase 1 (Y285L)		/	Unkown
HY-E70289	Bovin beta-1,4-galactosyltransferase 1 (Y289L)		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	GALT	VGNC	VGNC:41103
Bos taurus	GALT	VGNC	VGNC:29242
Rattus norvegicus	GALT	RGD	RGD:1306483
Felis catus	GALT	VGNC	VGNC:97443
Mus musculus	GALT	MGD	MGI:95638
Others	GALT	NCBI

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