Gene: MPDU1

Alternate names for this Gene: CDGIF|HBEBP2BPA|Lec35|My008|PP3958|PQLC5|SL15|SLC66A5

Gene Summary: 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. Mutations in this gene result in congenital disorder of glycosylation type If. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 17

Location in Chromosome : 17p13.1

Description of this Gene: mannose-P-dolichol utilization defect 1

Type of Gene: protein-coding

Gene: LOC100996842

Alternate names for this Gene: -

Gene Summary:

Gene is located in Chromosome: 17

Location in Chromosome : 17p13.1

Description of this Gene: uncharacterized LOC100996842

Type of Gene: ncRNA

rs104894586 in MPDU1;LOC100996842 gene and CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If PMID 11733556 2001 A mutation in the human MPDU1 gene causes congenital disorder of glycosylation type If (CDG-If).

PMID 11733564 2001 MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If.

rs2075230 in MPDU1;LOC100996842 gene and Follicle stimulating hormone measurement PMID 24049095 2013 Genome-wide association study of sex hormones, gonadotropins and sex hormone-binding protein in Chinese men.

rs2075230 in MPDU1;LOC100996842 gene and Sex hormone binding globulin measurement PMID 24049095 2013 In addition, we confirmed the previous GWAS-identified locus at 17p13.1 for testosterone (rs2075230, p=1.13×10(-8)) and SHBG level (rs2075230, p=4.75×10(-19)) in the Chinese population.

rs2075230 in MPDU1;LOC100996842 gene and Testosterone measurement PMID 24049095 2013 In addition, we confirmed the previous GWAS-identified locus at 17p13.1 for testosterone (rs2075230, p=1.13×10(-8)) and SHBG level (rs2075230, p=4.75×10(-19)) in the Chinese population.