MPDU1 gene

mannose-P-dolichol utilization defect 1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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. [provided by RefSeq, Dec 2008]

From UniProt:

Required for normal utilization of mannose-dolichol phosphate (Dol-P-Man) in the synthesis of N-linked and O-linked oligosaccharides and GPI anchors.

From NCBI Gene:

  • Congenital disorder of glycosylation type 1F

From UniProt:

Congenital disorder of glycosylation 1F (CDG1F): A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. [MIM:609180]

Cytogenetic Location: 17p13.1-p12, which is the short (p) arm of chromosome 17 between positions 13.1 and 12

Molecular Location: base pairs 7,583,647 to 7,588,212 on chromosome 17 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 17p13.1-p12, which is the short (p) arm of chromosome 17 between positions 13.1 and 12
  • CDGIF
  • HBEBP2BPA
  • Lec35
  • My008
  • PP3958
  • PQLC5
  • SL15