Mannose-P-Dolichol Utilization Defect 1

Alternative Names

MPDU1
Suppressor of LEC15
SL15
LEC35

Length

4,566 bases

No. of Exons

No. of isoforms

Protein Name

Mannose-P-dolichol utilization defect 1 protein

Molecular Mass

26638 Da

Amino Acid Count

247

Genomic Location

chr17:7,583,646-7,588,211

Gene Map Locus

17p13.1

Description

This gene encodes an endoplasmic reticulum membrane protein that is required for utilization of the mannose donor mannose-P-dolichol in the synthesis of lipid-linked oligosaccharides and glycosylphosphatidylinositols. [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_004870.3:c.310G>A	United Arab Emirates; ...	NC_000017.11:g.7586699G>A	Likely Pathogenic	Likely Pathogenic	Congenital Disorder Of Glycosylation, Type If	NG_009204.1:g.8053G>A; NM_004870.3:c.310G>A; NP_004861.2:p.Gly104Ser	1555570093	495318
NM_004870.3:c.377A>C	Yemen	NC_000017.11:g.7586766A>C	Likely Pathogenic			NG_009204.1:g.8120A>C; NM_004870.3:c.377A>C; NP_004861.2:p.Gln126Pro	1555570110	495319

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External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=mpdu1

Contributors

Sayeeda Hana: 31.03.2021

Edit History

Sayeeda Hana: 31.03.2021

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