GeneID: 489

Names

Common Name:	CHSY3	Type:	Gene
Chromosome:	5 (NC_000005.10)	Locus:	NM_175856.5 (CHSY3)
HUGO Symbol:	CHSY3	Full Name:	chondroitin sulfate synthase 3
Exons:	3	Introns:	2

Description:
CHSY3 is a glycosyltransferase that has both glucuronyltransferase and N-acetylgalactosaminyltransferase activities. Glycosylation is essential to brain development and function, while the dysfunction of glycosyltransferases has been implicated in neurodegenerative diseases. Sequence variation downstream the CHSY3 gene associated with stroke outcomes in patients with sickle cell disease.

Synonyms: CSS3 , CHSY2

Comments:
N/A

Number of entries/variants: 1

External Links

NCBI Gene	UniProtKB
HGNC	OMIM

IthaScore

Sequence Viewer

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Publications / Origin

Brewin JN, Rooks H, Gardner K, Senior H, Morje M, Patel H, Calvet D, Bartolucci P, Thein SL, Menzel S, Rees DC, Genome wide association study of silent cerebral infarction in sickle cell disease (HbSS and HbSC)., Haematologica, 106(6), 1770-1773, 2021 PubMed

Created on 2022-03-29 10:42:57, Last reviewed on (Show full history)

A/A	Date	Curator(s)	Comments
1	2022-03-29 10:42:57	The IthaGenes Curation Team	Created

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