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FLASH GENE

Symbol

C1GALT1C1

contributors: mct - updated : 14-11-2018

HGNC name	C1GALT1-specific chaperone 1
HGNC id	24338

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional somatic mutation       in Tn syndrome (autoimmune disease with blood cells carrying an incompletely glycosylated membrane glycoprotein) (OMIM: 300622) constitutional         truncated protein in human colorectal cell line and in Jurkat cells constitutional somatic mutation       abolishing function of a glycosyltransferase, disrupting O-glycan core 1 synthesis and creating a tumor-specific glycopeptidic neoepitope consisting of a monosaccharide and a specific wildtype protein sequence constitutional     --low   implicated in the IGAN pathogenesis (but minor role) constitutional     --low   in pediatric IgA nephropathy (IGAN), hypermethylation of C1GALT1C1 promoter region could be a key mechanism for the reduction of Cosmc mRNA expression in IgAN lymphocytes with associated increase in aberrantly glycosylated IgA1

Susceptibility

to IgA nephropathy to inflammatory bowel disease (IBD)

Variant & Polymorphism	polymorphism of C1GALT1C1 gene is associated with the genetic susceptibility to IgA nephropathy
	is an IBD risk factor implicated in regulating the spatial pattern of dysbiosis and sex bias in IBD

Candidate gene	expression of the disease-related Tn antigen can result from deregulation or loss of C1GALT1C1 function
Marker
Therapy target

ANIMAL & CELL MODELS