2. Gene
  3. GALM - galactose mutarotase Gene

GALM - galactose mutarotase Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

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
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables aldose 1-epimerase activity IDA
IDA: 通过直接分析推断
12753898 GOA
NOT enables protein homodimerization activity IDA
IDA: 通过直接分析推断
12753898 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
acts upstream of or within carbohydrate metabolic process IDA
IDA: 通过直接分析推断
12753898 GOA
involved in galactose catabolic process via UDP-galactose IDA
IDA: 通过直接分析推断
30451973 GOA
involved in galactose metabolic process IDA
IDA: 通过直接分析推断
12753898 GOA
involved in glucose metabolic process IDA
IDA: 通过直接分析推断
12753898 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

GALM 蛋白结构

Aldose_epim

Aldose_epim: Aldose 1-epimerase (22 - 337)

  • 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

相关产品

Pre-clinical Phase
生物活性分子 (1)
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 Pre-designed Sets / 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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