ALG13 UDP-N-Acetylglucosaminyltransferase Subunit

Alternative Names

ALG13
ALG13, S. cerevisiae, Homolog of
Asparagine-Linked Glycosylation 13, S. cerevisiae, Homolog of
Glycosyltransferase 28 Domain-Containing 1
GLT28D1

Length

98,354 bases

No. of Exons

No. of isoforms

Protein Name

Putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13

Molecular Mass

126056 Da

Amino Acid Count

1137

Genomic Location

chrX:111,665,811-111,764,164

Gene Map Locus

Xq23

Description

The protein encoded by this gene is a subunit of a bipartite UDP-N-acetylglucosamine transferase. It heterodimerizes with asparagine-linked glycosylation 14 homolog to form a functional UDP-GlcNAc glycosyltransferase that catalyzes the second sugar addition of the highly conserved oligosaccharide precursor in endoplasmic reticulum N-linked glycosylation. Multiple transcript variants encoding different isoforms have been found for this gene. [From RefSeq]

Epidemiology in the Arab World

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Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_001099922.3:c.320A>G	United Arab Emirates	NC_000023.11:g.111685040A>G	Pathogenic	Likely Pathogenic	Developmental and Epileptic Encephalopathy 36	NG_016238.1:g.8923A>G; NM_001099922.3:c.320A>G; NP_001093392.1:p.Asn107Ser	398122394	66086
NM_001099922.3:c.3221A>G	Arab	NC_000023.11:g.111759806A>G	Benign, Likely Benign	Likely Pathogenic	Intellectual Developmental Disorder, X-Linked 1	NG_016238.1:g.83689A>G; NM_001099922.3:c.3221A>G; NP_001093392.1:p.Tyr1074Cys	372990620	381527
NM_001099922.3:c.3330A>T	Lebanon	chrX:111759915		Likely Pathogenic	Developmental and Epileptic Encephalopathy 36	NG_016238.1:g.83798A>T; NM_001099922.3:c.3330A>T; NP_001093392.1:p.Gln1110His	761412613

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External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=ALG13 https://www.ncbi.nlm.nih.gov/gene/79868

Contributors

Pratibha Nair: 06.07.2022
Pratibha Nair: 15.11.2020

Edit History

Pratibha Nair: 06.07.2022
Pratibha Nair: 02.06.2022
Sayeeda Hana: 31.03.2021
Pratibha Nair: 15.11.2020

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