GALM - galactose mutarotase Gene

中文名称：半乳糖变旋酶

种属: Homo sapiens

同用名: GLAT; IBD1; GALAC4; BLOCK25; HEL-S-63p

基因 ID: 130589 | 基因类型: protein coding

关于 GALM

Cytogenetic location: 2p22.1 Genomic coordinates (GRCh38): 2:38,666,114-38,734,765 (from NCBI)

This gene has 5 transcripts (splice variants), 208 orthologues and is associated with 2 phenotypes. Broad expression in kidney (RPKM 43.9), duodenum (RPKM 30.0) and 20 other tissues.

功能概要

该基因编码的酶可催化己糖 (例如葡萄糖和半乳糖) 的差向异构化。编码的蛋白质在细胞质中表达，对半乳糖有偏好。通过维持半乳糖的 α 和 β 端基异构体的平衡，正常的半乳糖代谢可能需要编码的蛋白质。[RefSeq 提供，2009 年 3 月]

This gene encodes an Enzyme that catalyzes the epimerization of hexose sugars such as glucose and galactose. The encoded protein is expressed in the cytoplasm and has a preference for galactose. The encoded protein may be required for normal galactose metabolism by maintaining the equilibrium of alpha and beta anomers of galactose.[provided by RefSeq, Mar 2009]

GALM 基因产物(1)

mRNA	Protein	Name
NM_138801.3	NP_620156.1	galactose mutarotase

GALM 蛋白结构

Aldose_epim

0
100
200
300
342 a.a.

蛋白主名

其他名称

galactose mutarotase

aldose 1-epimerase

重组 GALM 蛋白

目录号	产品名	蛋白编号	纯度
HY-P7479	Aldose 1-epimerase/GALM Protein, Human (His)	Q96C23 (A2-A342)	≥95%

关联疾病

疾病名称

别名

Galactosemia Iv

Galactose Mutarotase Deficiency	Galactosemia 4
GALAC4	Galm Deficiency
Galactosemia Type 4

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

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]

Internuclear Ophthalmoplegia

Ophthalmoplegia Internuclearis	Bielschowsky-Lutz-Cogan Syndrome
Ino - [Internuclear Ophthalmoplegia]	Lhermitte Syndrome
Mlf - [Medial Longitudinal Fasciculus] Syndrome	Internuclear Paralysis

Powassan Encephalitis

Powassan Encephalitis Virus Infection

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS05245	GALM Human Pre-designed siRNA Set A		/	否

直系同源

种属	基因名	来源	基因 ID
Rattus norvegicus	GALM	RGD	RGD:1359459
Mus musculus	GALM	MGD	MGI:2442420
Macaca mulatta	GALM	VGNC	VGNC:97772
Bos taurus	GALM	VGNC	VGNC:29221
Felis catus	GALM	VGNC	VGNC:62441
Canis familiaris	GALM	VGNC	VGNC:41083
Others	GALM	NCBI

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GALM - galactose mutarotase Gene

关于 GALM

功能概要

GALM 基因产物(1)

GALM 蛋白结构

重组 GALM 蛋白

关联疾病

直系同源

热门区域

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GALM - galactose mutarotase Gene

关于 GALM

功能概要

GALM 基因产物(1)

GALM 蛋白结构

重组 GALM 蛋白

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z