1. Gene
  2. DSEL - dermatan sulfate epimerase like Gene

DSEL - dermatan sulfate epimerase like Gene

中文名称:硫酸皮肤素差向异构酶样

种属: Homo sapiens

同用名: C18orf4; DE-epi2

基因 ID: 92126 | 基因类型: protein coding

关于 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.

功能概要

预测可启用软骨素-葡萄糖醛酸 5-差向异构酶活性。预计参与硫酸软骨素代谢过程和硫酸皮肤素代谢过程。预测位于高尔基体膜。 [由基因组资源联盟提供,2022 年 4 月]

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 基因产物(1)

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

DSEL 蛋白结构

Sulfotransfer_1

Sulfotransfer_1: Sulfotransferase domain (863 - 1212)

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  • 1000
  • 1222 a.a.
蛋白主名 其他名称

dermatan-sulfate epimerase-like protein

NCAG1

关联疾病

疾病名称 别名
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]

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

直系同源

种属 基因名 来源 基因 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