GALK1 - galactokinase 1 Gene

Homo sapiens

Also known as GK1; GALK; HEL-S-19

Gene ID: 2584 | Gene type: protein coding

About GALK1

Cytogenetic location: 17q25.1 Genomic coordinates (GRCh38): 17:75,751,469-75,765,192 (from NCBI)

This gene has 9 transcripts (splice variants), 196 orthologues, 2 paralogues and is associated with 4 phenotypes. Ubiquitous expression in kidney (RPKM 15.6), liver (RPKM 14.6) and 25 other tissues.

Summary

Galactokinase is a major Enzyme for the metabolism of galactose and its deficiency causes congenital cataracts during infancy and presenile cataracts in the adult population. [provided by RefSeq, Jul 2008]

GALK1 Products(2)

mRNA	Protein	Name
NM_000154.2	NP_000145.1	galactokinase
NM_001381985.1	NP_001368914.1	galactokinase

GALK1 Protein Structure

GalKase_gal_bdg

GHMP_kinases_N

GHMP_kinases_C

0
100
200
300
392 a.a.

Protein Preferred Names

Protein Names

galactokinase

epididymis secretory protein Li 19

Recombinant GALK1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P70365	Galactokinase/GALK1 Protein, Human (His)	P51570 (M1-L392)	≥95%

Related Diseases

Diseases

Alias

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]

Epidermolysis Bullosa, Junctional 5a, Intermediate

JEB5A	Epidermolysis Bullosa, Junctional 5a, Generalized Intermediate
Epidermolysis Bullosa, Junctional 5a, Non-Herlitz Type

Epidermolysis Bullosa With Pyloric Atresia

Eb-Pa	Carmi Syndrome
Junctional Epidermolysis Bullosa With Pyloric Atresia	Pa-Jeb

Epidermolysis Bullosa, Junctional 5b, With Pyloric Atresia

Junctional Epidermolysis Bullosa With Pyloric Atresia	Carmi Syndrome
Epidermolysis Bullosa, Junctional, With Pyloric Atresia	Jeb-Pa
JEB5B	Epidermolysis Bullosa Junctionalis With Pyloric Atresia
Aplasia Cutis Congenita With Gastrointestinal Atresia	Epidermolysis Bullosa, Junctional, With Pyloric Atresia And Aplasia Cutis Congenita
Eb-Pa-Acc	Junctional Epidermolysis Bullosa-Pyloric Atresia Syndrome
Jeb With Pyloric Atresia	Epidermolysis Bullosa Letalis, With Pyloric Atresia
Pa-Jeb	Epidermolysis Bullosa With Pyloric Atresia

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

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

Epidermolysis Bullosa Simplex 1c, Localized

Epidermolysis Bullosa Of Hands And Feet	EBS1C
Ebs, Acral Form	Epidermolysis Bullosa Simplex 1c, Weber-Cockayne Type
Epidermolysis Bullosa Simplex, Localized	Epidermolysis Bullosa Simplex, Weber-Cockayne Type
Wc-Ebs

Epidermolysis Bullosa Simplex Localized Type

Epidermolysis Bullosa Simplex, Weber-Cockayne Type	Weber-Cockayne Syndrome
Ebs-Loc	Epidermolysis Bullosa Simplex Of Palms And Soles
Epidermolysis Bullosa Simplex Weber-Cockayne Type	Epidermolysis Bullosa Simplex, Localized
Epidermolysis Bullosa Of Hands And Feet	Weber-Cockayne Type Epidermolysis Bullosa Simplex
Localized Epidermolysis Bullosa Simplex	Localized Ebs

Junctional Epidermolysis Bullosa Non-Herlitz Type

Junctional Epidermolysis Bullosa, Non-Herlitz Type	Gabeb
Generalized Atrophic Benign Epidermolysis Bullosa	Generalized Junctional Epidermolysis Bullosa, Non-Herlitz Type
Jeb-Nh Gen	Jen-Nh
Junctional Epidermolysis Bullosa Generalisata Mitis	Junctional Epidermolysis Bullosa, Disentis Type
Epidermolysis Bullosa, Junctional, Non-Herlitz Type

Epidermolysis Bullosa, Junctional 1a, Intermediate

Jeb-I	JEB1A
Epidermolysis Bullosa Junctionalis, Disentis Type	Junctional Epidermolysis Bullosa Inversa
Generalized Atrophic Benign Epidermolysis Bullosa	Epidermolysis Bullosa, Junctional 1a, Generalized Intermediate
Epidermolysis Bullosa, Junctional 1a, Non-Herlitz Type	Epidermolysis Bullosa Junctionalis, Non-Herlitz Type
Epidermolysis Bullosa Junctionalis, Progressive	Epidermolysis Bullosa Junctionalis, Severe Nonlethal
Localized Junctional Epidermolysis Bullosa	Jeb-Nh Loc
Junctional Epidermolysis Bullosa, Non-Herlitz Localized Type	Localized Jeb
Intermediate Generalized Junctional Epidermolysis Bullosa	Generalized Junctional Epidermolysis Bullosa, Non-Herlitz Type
Intermediate Generalized Jeb	Junctional Epidermolysis Bullosa Generalisata Mitis
Junctional Epidermolysis Bullosa, Disentis Type	Jeb Inversa
Epidermolysis Bullosa Atrophicans Generalisata Mitis	Epidermolysis Bullosa Junctionalis Disentis Type
Epidermolysis Bullosa Junctionalis Progressive	Epidermolysis Bullosa Junctionalis Severe Non-Lethal
Gabeb	Generalized Junctional Epidermolysis Bullosa Mitis
Non-Herlitz Junctional Epidermolysis Bullosa	Epidermolysis Bullosa Inversa Dystrophica

Mevalonic Aciduria

Mevalonate Kinase Deficiency	Mevalonicaciduria
Hyperimmunoglobulin D With Periodic Fever	MEVA
Complete Mevalonate Kinase Deficiency	Mva
Hyperimmunoglobulinemia D	Hyper Igd Syndrome
Periodic Fever, Dutch Type	Mkd
Aciduria, Mevalonic	Deficiency Of Mevalonate Kinase

Lowe Oculocerebrorenal Syndrome

Lowe Syndrome	Oculocerebrorenal Syndrome
OCRL	Oculocerebrorenal Syndrome Of Lowe
Ocrl1	Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency
Lowe Disease	Phosphatidylinositol 4,5-Biphosphate 5-Phosphatase Deficiency
Cerebrooculorenal Syndrome	Phosphatidylinositol-4,5-Bisphosphate-5-Phosphatase Deficiency
Lowe Oculo-Cerebro-Renal Dystrophy	Lowe Oculo-Cerebro-Renal Syndrome
Lowe Oculocerebrorenal Dystrophy	Low
Chromosome 11p Deletion Syndrome	Oculocerebrorenal Dystrophy
Cerebro-Oculorenal Dystrophy	Ocrl1 - [Oculocerebrorenal Syndrome]
Lowe-Terrey-Maclachlan Syndrome	Renal-Oculocerebrodystrophy

Cataract

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

Intracranial Hypertension, Idiopathic

Pseudotumor Cerebri	Idiopathic Intracranial Hypertension
Benign Intracranial Hypertension	Iih
Benign Intracran. Hypt.

Cerebral Creatine Deficiency Syndrome 2

Guanidinoacetate Methyltransferase Deficiency	Gamt Deficiency
Creatine Deficiency Syndrome Due To Gamt Deficiency	Deficiency Of Guanidinoacetate Methyltransferase
CCDS2	Guanidinoacetate Methyltransferase Deficiency
Deficiency, Cerebral Creatine, Syndrome, Type 2	Language Development Disorders

Lens Disease

Lens Diseases

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

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

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 (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-128047	GALK1-IN-1		≥98.0%	Unkown
HY-132888	NCATS-SM4487	Inhibitor	/	Unkown
HY-RS05243	GALK1 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	GALK1	VGNC	VGNC:41081
Rattus norvegicus	GALK1	RGD	RGD:1305375
Macaca mulatta	GALK1	VGNC	VGNC:72869
Felis catus	GALK1	VGNC	VGNC:62439
Bos taurus	GALK1	VGNC	VGNC:29219
Mus musculus	GALK1	MGD	MGI:95730
Others	GALK1	NCBI

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