GXYLT1 - glucoside xylosyltransferase 1 Gene

Homo sapiens

Also known as GLT8D3

Gene ID: 283464 | Gene type: protein coding

About GXYLT1

Cytogenetic location: 12q12 Genomic coordinates (GRCh38): 12:42,081,845-42,144,874 (from NCBI)

This gene has 2 transcripts (splice variants), 282 orthologues and 5 paralogues. Ubiquitous expression in placenta (RPKM 5.6), thyroid (RPKM 5.4) and 25 other tissues.

Summary

GXYLT1 is a xylosyltransferase (EC 2.4.2.-) that adds the first xylose to O-glucose-modified residues in the epidermal growth factor (EGF; MIM 131530) repeats of proteins such as NOTCH1 (MIM 190198) (Sethi et al., 2010 [PubMed 19940119]).[supplied by OMIM, Mar 2010]

GXYLT1 Products(2)

mRNA	Protein	Name
NM_001099650.2	NP_001093120.1	glucoside xylosyltransferase 1 isoform 2
NM_173601.2	NP_775872.1	glucoside xylosyltransferase 1 isoform 1

GXYLT1 Protein Structure

Glyco_transf_8

0
100
200
300
400
440 a.a.

Protein Preferred Names

Protein Names

glucoside xylosyltransferase 1

glycosyltransferase 8 domain containing 3

Related Diseases

Diseases

Alias

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2z

Limb-Girdle Muscular Dystrophy 21

Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes

Cronkhite-Canada Syndrome	Gastric Cronkhite Canada Polyposis
Cronkhite-Canada Disease	Polyposis Skin Pigmentation Alopecia Fingernail Changes
Gastrointestinal Polyposis-Ectodermal Changes Syndrome	Gastrointestinal Polyposis-Skin Pigmentation-Alopecia-Fingernail Changes Syndrome
Polyposis, Gastrointestinal, With Ectodermal Changes

Dowling-Degos Disease

Reticular Pigment Anomaly Of Flexures	Dark Dot Disease
Reticulate Acropigmentation Of Kitamura	Dowling-Degos Kitamura Disease
Kitamura Reticulate Acropigmentation	Ddd
Dowling-Degos-Kitamura Disease	Reticular Pigmented Anomaly Of Flexures

Spondylocostal Dysostosis

Jarcho-Levin Syndrome	Costovertebral Dysplasia
Spondylothoracic Dysostosis	Spondylothoracic Dysplasia
Scdo	Dysostosis, Spondylocostal

Adams-Oliver Syndrome

Adams Oliver Syndrome	Aos
Congenital Scalp Defects With Distal Limb Reduction Anomalies	Aplasia Cutis Congenita With Terminal Transverse Limb Defects
Congenital Scalp Defects With Distal Limb Anomalies	Limb, Scalp And Skull Defects
Limb Scalp And Skull Defects	Absence Defect Of Limbs, Scalp, And Skull

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-RS05928	GXYLT1 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	GXYLT1	VGNC	VGNC:62742
Rattus norvegicus	GXYLT1	RGD	RGD:1563062
Bos taurus	GXYLT1	VGNC	VGNC:29726
Canis familiaris	GXYLT1	VGNC	VGNC:57426
Mus musculus	GXYLT1	MGD	MGI:2684933

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