DSEL - dermatan sulfate epimerase like Gene

Homo sapiens

Also known as C18orf4; DE-epi2

Gene ID: 92126 | Gene type: protein coding

About DSEL

Cytogenetic location: 18q22.1 Genomic coordinates (GRCh38): 18:67,506,587-67,516,720 (from NCBI)

This gene has 1 transcript (splice variant), 1 gene allele, 202 orthologues and 1 paralogue. Broad expression in brain (RPKM 4.8), kidney (RPKM 3.2) and 22 other tissues.

Summary

Predicted to enable chondroitin-glucuronate 5-epimerase activity. Predicted to be involved in chondroitin sulfate metabolic process and dermatan sulfate metabolic process. Predicted to be located in Golgi membrane. [provided by Alliance of Genome Resources, Apr 2022]

DSEL Products(1)

mRNA	Protein	Name
NM_032160.3	NP_115536.2	dermatan-sulfate epimerase-like protein precursor

DSEL Protein Structure

Sulfotransfer_1

0
200
400
600
800
1000
1222 a.a.

Protein Preferred Names

Protein Names

dermatan-sulfate epimerase-like protein

NCAG1

Related Diseases

Diseases

Alias

Ehlers-Danlos Syndrome, Musculocontractural Type, 2

Ehlers-Danlos Syndrome, Musculocontractural Type 2	EDSMC2
Ehlers-Danlos Syndrome Musculocontractural Type 2	Ehlers-Danlos, Musculocontractural Syndrome, Type 2

Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1

Xylosylprotein 4-Beta-Galactosyltransferase Deficiency	Xgpt Deficiency
EDSSPD1	Ehlers-Danlos Syndrome With Short Stature And Limb Anomalies
Edssla	Proteodermatan Sulfate, Defective Biosynthesis Of
Pds, Defective Biosynthesis Of	Dermatan Sulfate Proteoglycan
Galactosyltransferase I Deficiency	Ehlers-Danlos Syndrome Spondylodysplastic Type 1
Spondylodysplastic Ehlers-Danlos Syndrome	Ehlers-Danlos Syndrome, Progeroid Type, 1, Formerly
Edsp1, Formerly	Ehlers-Danlos Syndrome, Progeroid Type
Galactosyltransferase 1 Deficiency	Spondylodysplastic Eds
Speds	Defective Biosynthesis Of Pds
Defective Biosynthesis Of Proteodermatan Sulfate	Edsp1
Ehlers-Danlos Syndrome, Progeroid Type, 1	Proteodermatan Sulfate Defective Biosynthesis Of
Ehlers-Danlos, Spondylodysplastic Syndrome	Ehlers-Danlos Syndrome, Progeroid Form

Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2

Ehlers-Danlos Syndrome Progeroid Type	Ehlers-Danlos Syndrome, Progeroid Type, 2
EDSSPD2	Ehlers-Danlos Syndrome Spondylodysplastic Type 2
Ehlers-Danlos Syndrome, Progeroid Type, 2, Formerly	Edsp2, Formerly
Defective Biosynthesis Of Proteodermatan Sulfate	Xgpt Deficiency
Xylosylprotein 4-Beta-Galactosyltransferase Deficiency	B3galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
B3galt6-Related Speds	B3galt6-Related Spondylodysplastic Eds
Beta3galt6-Deficient Eds	Ehlers-Danlos Syndrome Progeroid Type 2
Speds-B3galt6	Edsp2
Ehlers-Danlos, Spondylodysplastic Syndrome, Type 2	Ehlers-Danlos Syndrome, Progeroid Form

Ehlers-Danlos Syndrome, Musculocontractural Type, 1

Ehlers-Danlos Syndrome, Musculocontractural Type 1	EDSMC1
Edsmc	Adducted Thumb-Clubfoot Syndrome
Atcs	Dundar Syndrome
Arthrogryposis, Distal, With Peculiar Facies And Hydronephrosis	Ehlers-Danlos Syndrome Musculocontractural Type 1
Adducted Thumb, Clubfoot, And Progressive Joint And Skin Laxity Syndrome	Ehlers-Danlos Syndrome, Type Vib, Formerly
Eds6b, Formerly	Adducted Thumbs-Arthrogryposis Dundar Type
Arthrogryposis Distal With Peculiar Facies And Hydronephrosis	Eds6b Formerly
Ehlers-Danlos Syndrome Type Vib Formerly	Ehlers-Danlos, Musculocontractural Syndrome, Type 1

Temtamy Preaxial Brachydactyly Syndrome

Preaxial Brachydactyly Syndrome, Temtamy Type	TPBS
Intellectual Disability Syndrome With Preaxial Brachydactyly, Hyperphalangism, Deafness And Orodental Anomalies	Preaxial Brachydactyly Syndrome Temtamy Type

Schneckenbecken Dysplasia

SHNKND	Chondrodysplasia, Lethal Neonatal, With Snail-Like Pelvis
Chondrodysplasia Lethal Neonatal With Snail Like Pelvis	Chondrodysplasia With Snail-Like Pelvis
Slc35d1-Cdg	Dysplasia, Schneckenbecken

Diaphragmatic Hernia, Congenital

Congenital Diaphragmatic Hernia	Diaphragmatic Hernia
Cdh	Congenital Diaphragmatic Defect
Hernia, Diaphragmatic	Dih
Hernia, Congenital Diaphragmatic	Hcd
Diaphragmatic Defect, Congenital	Diaphragm, Unilateral Agenesis Of
Hemidiaphragm, Agenesis Of	Diaphragmatic Hernia 1
Agenesis Of Hemidiaphragm	Unilateral Agenesis Of Diaphragm
Hernia Diaphragmatic	Hernia Diaphragmatic Congenital
Hernia, Diaphragmatic, Type 1	Hiatus Hernia
Oesophageal Hiatus Hernia	Paraoesophageal Hernia
Sliding Hiatus Hernia	Congenital Diaphragm Hernia
Congenital Diaphragm Defect With Hernia	Gross Congenital Diaphragm Defect

Ehlers-Danlos Syndrome

Eds	Cutis Hyperelastica
Elastic Skin	Ehlers-Danlos Syndromes
Ed Syndrome	Ehlers Danlos Syndrome
Ehlers Danlos Disease	Eds - [Ehlers-Danlos Syndrome]

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-RS04020	DSEL Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	DSEL	VGNC	VGNC:101438
Rattus norvegicus	DSEL	RGD	RGD:1307724
Bos taurus	DSEL	VGNC	VGNC:28219
Felis catus	DSEL	VGNC	VGNC:82343
Mus musculus	DSEL	MGD	MGI:2442948
Canis familiaris	DSEL	VGNC	VGNC:40104

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