SORD - sorbitol dehydrogenase Gene

Homo sapiens

Also known as RDH; SDH; XDH; SORD1; SORDD; HEL-S-95n

Gene ID: 6652 | Gene type: protein coding

About 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.

Summary

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 Products(1)

mRNA	Protein	Name
NM_003104.6	NP_003095.2	sorbitol dehydrogenase

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables L-iditol 2-dehydrogenase (NAD+) activity	IDA IDA: Inferred from direct assay	3365415	GOA
enables L-iditol 2-dehydrogenase (NAD+) activity	IMP IMP: Inferred from mutant phenotype	32367058	GOA
enables NAD binding	IDA IDA: Inferred from direct assay	12962626	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	16189514	GOA
enables zinc ion binding	IDA IDA: Inferred from direct assay	12962626	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in fructose biosynthetic process	IDA IDA: Inferred from direct assay	3365415	GOA
involved in sorbitol catabolic process	IDA IDA: Inferred from direct assay	3365415	GOA
involved in sorbitol catabolic process	IMP IMP: Inferred from mutant phenotype	32367058	GOA
involved in xylitol catabolic process	IDA IDA: Inferred from direct assay	8487505	GOA
involved in xylitol metabolic process	IDA IDA: Inferred from direct assay	3365415	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in extracellular exosome	IDA IDA: Inferred from direct assay	21557262	GOA
located in membrane	IDA IDA: Inferred from direct assay	8487505	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SORD Protein Structure

ADH_N

ADH_zinc_N

0
100
200
300
357 a.a.

Protein Preferred Names

Protein Names

sorbitol dehydrogenase

(R,R)-butanediol dehydrogenase

SORD Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	SORD	Q00796	SORD	Homo sapiens	Q00796	Y2H	21516116
Intra	SORD	Q00796	SORD	Homo sapiens	Q00796	Y2H Pooling	16189514
Intra	SORD	Q00796	SORD	Homo sapiens	Q00796	Y2H Array	31515488
Intra	SORD	Q00796	SORD	Homo sapiens	Q00796	Validated Y2H	32296183
Intra	SORD	Q00796	SORD	Homo sapiens	Q00796	Y2H Prey Pooling	32296183
Intra	SORD	Q00796	RELA	Homo sapiens	Q04206	Y2H	21988832
Intra	SORD	Q00796	SORD	Homo sapiens	Q00796	Y2H Array	32296183
Intra	SORD	Q00796	GCD7	Saccharomyces cerevisiae	P32502	Y2H Pooling	27107014

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant SORD Proteins

Cat. No.	Product Name	Accession	Purity
HY-P71328	SORD Protein, Human (HEK293, His)	AAH21085.1 (A2-P357)	≥95%

Related Diseases

Diseases

Alias

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

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 (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13573	SORD Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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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