2. Gene
  3. SORD - sorbitol dehydrogenase Gene

SORD - sorbitol dehydrogenase Gene

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

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

SORD 蛋白结构

ADH_N

ADH_N: Alcohol dehydrogenase GroES-like domain (32 - 142)

ADH_zinc_N

ADH_zinc_N: Zinc-binding dehydrogenase (183 - 312)

  • 0
  • 100
  • 200
  • 300
  • 357 a.a.
蛋白主名 其他名称

sorbitol dehydrogenase

(R,R)-butanediol dehydrogenase

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

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-RS13573 SORD Human Pre-designed siRNA Set A / 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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