SORD - sorbitol dehydrogenase Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6652

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	References	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	References	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	References	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	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
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%, as determined by reducing SDS-PAGE.

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

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13573	SORD Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18973	Sord Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25462	Sord Rat Pre-designed siRNA Set A	Pre-designed Set	/	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