SORD - sorbitol dehydrogenase Gene

中文名称：山梨醇脱氢酶

种属: Homo sapiens

同用名: RDH; SDH; XDH; SORD1; SORDD; HEL-S-95n

基因 ID: 6652 | 基因类型: protein coding

关于 SORD

Cytogenetic location: 15q21.1 Genomic coordinates (GRCh38): 15:45,023,195-45,077,185 (from NCBI)

This gene has 12 transcripts (splice variants), 226 orthologues, 17 paralogues and is associated with 1 phenotype. Biased expression in thyroid (RPKM 163.1), liver (RPKM 161.4) and 11 other tissues.

功能概要

山梨糖醇脱氢酶 (SORD; EC 1.1.1.14) 催化多元醇及其相应酮糖的相互转化，并与醛糖还原酶 (ALDR1; MIM 103880) 一起构成山梨糖醇途径，该途径被认为在糖尿病的发展中起重要作用并发症 (由 Carr 和 Markham 总结，1995 [PubMed 8535074]) 。该途径 (也称为多元醇途径) 的第一个反应是以 NADPH 为辅因子，通过 ALDR1 将葡萄糖还原为山梨糖醇。然后，SORD 使用 NAD (+) 辅助因子将山梨糖醇氧化为果糖。[OMIM 提供，2010 年 7 月]

Sorbitol dehydrogenase (SORD; EC 1.1.1.14) catalyzes the interconversion of polyols and their corresponding ketoses, and together with Aldose Reductase (ALDR1; MIM 103880), makes up the sorbitol pathway that is believed to play an important role in the development of diabetic complications (summarized by Carr and Markham, 1995 [PubMed 8535074]). The first reaction of the pathway (also called the polyol pathway) is the reduction of glucose to sorbitol by ALDR1 with NADPH as the cofactor. SORD then oxidizes the sorbitol to fructose using NAD(+) cofactor.[supplied by OMIM, Jul 2010]

SORD 基因产物(1)

mRNA	Protein	Name
NM_003104.6	NP_003095.2	sorbitol dehydrogenase

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables L-iditol 2-dehydrogenase (NAD+) activity	IDA IDA: 通过直接分析推断	3365415	GOA
enables L-iditol 2-dehydrogenase (NAD+) activity	IMP IMP: 通过突变表型推断	32367058	GOA
enables NAD binding	IDA IDA: 通过直接分析推断	12962626	GOA
enables identical protein binding	IPI IPI: 通过物理相互作用推断	16189514	GOA
enables zinc ion binding	IDA IDA: 通过直接分析推断	12962626	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in fructose biosynthetic process	IDA IDA: 通过直接分析推断	3365415	GOA
involved in sorbitol catabolic process	IDA IDA: 通过直接分析推断	3365415	GOA
involved in sorbitol catabolic process	IMP IMP: 通过突变表型推断	32367058	GOA
involved in xylitol catabolic process	IDA IDA: 通过直接分析推断	8487505	GOA
involved in xylitol metabolic process	IDA IDA: 通过直接分析推断	3365415	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in extracellular exosome	IDA IDA: 通过直接分析推断	21557262	GOA
located in membrane	IDA IDA: 通过直接分析推断	8487505	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

SORD 蛋白结构

ADH_N

ADH_zinc_N

0
100
200
300
357 a.a.

蛋白主名

其他名称

sorbitol dehydrogenase

(R,R)-butanediol dehydrogenase

SORD 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	SORD	Q00796	SORD	Homo sapiens	Q00796	Y2H	21516116
种属内	SORD	Q00796	SORD	Homo sapiens	Q00796	Y2H Pooling	16189514
种属内	SORD	Q00796	SORD	Homo sapiens	Q00796	Y2H Array	31515488
种属内	SORD	Q00796	SORD	Homo sapiens	Q00796	Validated Y2H	32296183
种属内	SORD	Q00796	SORD	Homo sapiens	Q00796	Y2H Prey Pooling	32296183
种属内	SORD	Q00796	RELA	Homo sapiens	Q04206	Y2H	21988832
种属内	SORD	Q00796	SORD	Homo sapiens	Q00796	Y2H Array	32296183
种属内	SORD	Q00796	GCD7	Saccharomyces cerevisiae	P32502	Y2H Pooling	27107014

种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 SORD 蛋白

目录号	产品名	蛋白编号	纯度
HY-P71328	SORD Protein, Human (HEK293, His)	AAH21085.1 (A2-P357)	≥95%

关联疾病

疾病名称

别名

Sorbitol Dehydrogenase Deficiency With Peripheral Neuropathy

SORDD

Sorbitol Dehydrogenase Deficiency

Diabetic Neuropathy

Diabetic Neuropathies

Peripheral Nervous System Disease

Peripheral Neuropathy	Peripheral Nerve Disease
Peripheral Nerve Disorders	Neuropathy, Peripheral
Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation

Neuropathy

Peripheral Neuropathy

Peripheral Neuropathies

Asymmetric Motor Neuropathy

Squamous Cell Papilloma

Papilloma	Epidermoid Papilloma
Papilloma, Squamous Cell

Diabetic Cataract

Cataract - Diabetic

Hyperglycemia

Transient Refractive Change

Cataract

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

Microvascular Complications Of Diabetes 5

Diabetic Retinopathy	Microvascular Complications Of Diabetes, Susceptibility To, 5
MVCD5	Retinopathy, Diabetic
Diabetic Nephropathy	Retinopathy, Diabetic, Susceptibility To
Retinal Abnormality - Diabetes-Related

Axonal Neuropathy

Mature Cataract

Total Or Mature Cataract

Total, Mature Senile Cataract

Charcot-Marie-Tooth Disease

Cmt	Hmsn
Hereditary Motor And Sensory Neuropathy	Pma
Cmt - Charcot-Marie-Tooth Disease	Charcot Marie Tooth Disease
Charcot-Marie-Tooth Hereditary Neuropathy	Charcot-Marie-Tooth Syndrome
Peroneal Muscular Atrophy	Hereditary Motor And Sensory Neuropathies

Charcot-Marie-Tooth Disease, Axonal, Type 2e

Charcot-Marie-Tooth Disease Type 2	CMT2E
CMT2S	CMT2Y
Charcot-Marie-Tooth Disease Type 2e	Charcot-Marie-Tooth Disease Type 2y
Charcot-Marie-Tooth Disease Axonal Type 2s	Charcot-Marie-Tooth Disease, Axonal, Type 2s
Charcot-Marie-Tooth Disease, Type 2e	Hereditary Motor And Sensory Neuropathy Type 2
Charcot-Marie-Tooth Neuropathy, Type 2s	Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s
Charcot-Marie-Tooth Disease, Axonal, Type 2y	Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y
Charcot-Marie-Tooth Neuropathy, Type 2y	Charcot-Marie-Tooth Disease, Type 2y
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e	Charcot-Marie-Tooth Neuropathy Type 2e
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Vcp Mutation	Cmt2 Due To Vcp Mutation
Charcot-Marie-Tooth Disease Type 2s	Autosomal Dominant Charcot-Marie-Tooth Disease Type 2
Autosomal Dominant Axonal Charcot-Marie-Tooth Disease	Cmt2
Charcot-Marie-Tooth Neuropathy, Type 2e	Hereditary Motor And Sensory Neuropathy Guadalajara Neuronal Type
Hereditary Motor And Sensory Neuropathy Okinawa Type	Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y
Charcot-Marie-Tooth Neuropathy Type 2y	Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s
Charcot-Marie-Tooth Neuropathy Type 2s	Charcot-Marie-Tooth Type 2
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y	Charcot-Marie-Tooth Disease 2e
Charcot-Marie-Tooth Disease Axonal Type 2e	Charcot-Marie-Tooth Disease Neuronal Type 2e
Charcot-Marie-Tooth Disease 2s	Charcot-Marie-Tooth Neuropathy Axonal Type 2s
Charcot-Marie-Tooth Disease 2y	Charcot-Marie-Tooth Disease, Type 2
Hereditary Motor And Sensory-Neuropathy Type Ii

Lens Disease

Lens Diseases

Diabetes Mellitus

Diabetes

Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive

Charcot-Marie-Tooth Disease Type 4	Charcot-Marie-Tooth Disease Type 4e
Hereditary Motor And Sensory Neuropathy	Cmt4e
CHN1	Hypomyelinating Neuropathy, Congenital, 1
Charcot-Marie-Tooth Neuropathy Type 4e	Neuropathy, Congenital Hypomyelinating, 1
Ar-Cmt1	Autosomal Recessive Demyelinating Charcot-Marie-Tooth
Cmt4	Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive
Hypomyelination, Severe Congenital	Charcot-Marie-Tooth Disease, Type 4e
Charcot-Marie-Tooth Neuropathy, Type 4e	Autosomal Recessive Congenital Hypomyelinating Or Amyelinating Neuropathy
Autosomal Recessive Congenital Hypomyelinating Neuropathy	Congenital Amyelinating Neuropathy
Congenital Hypomyelinating Neuropathy Autosomal Recessive	Neuropathy, Congenital Hypomyelinating Or Amyelinating
Severe Congenital Hypomyelination	Hereditary Sensory Motor Neuropathy
Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive	Neuropathy, Hypomyelinating, Congenital, Type 1
Neuropathy, Motor And Sensory, Hereditary	Congenital Hypomyelinating Neuropathy
Hereditary Motor And Sensory Neuropathies	Hereditary Sensorimotor Neuropathy
Hmsn - [Hereditary Motor And Sensory Neuropathy]	Hsmn - [Hereditary Sensory And Motor Neuropathy]
Hereditary Motor And Sensory Neuropathy, Types I-Iv

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-RS13573	SORD 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	SORD	RGD	RGD:3734
Bos taurus	SORD	VGNC	VGNC:35131
Mus musculus	SORD	MGD	MGI:98266
Macaca mulatta	SORD	VGNC	VGNC:77835
Felis catus	SORD	VGNC	VGNC:80836
Canis familiaris	SORD	VGNC	VGNC:46662
Others	SORD	NCBI

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站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

SORD - sorbitol dehydrogenase Gene

关于 SORD

功能概要

SORD 基因产物(1)

SORD 蛋白结构

SORD 蛋白互作信息

重组 SORD 蛋白

关联疾病

直系同源

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SORD - sorbitol dehydrogenase Gene

关于 SORD

功能概要

SORD 基因产物(1)

SORD 蛋白结构

SORD 蛋白互作信息

重组 SORD 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