ALG3 gene

ALG3, alpha-1,3- mannosyltransferase

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

From NCBI Gene:

This gene encodes a member of the ALG3 family. The encoded protein catalyses the addition of the first dol-P-Man derived mannose in an alpha 1,3 linkage to Man5GlcNAc2-PP-Dol. Defects in this gene have been associated with congenital disorder of glycosylation type Id (CDG-Id) characterized by abnormal N-glycosylation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]

From UniProt:

Adds the first Dol-P-Man derived mannose in an alpha-1,3 linkage to Man5GlcNAc2-PP-Dol.

From NCBI Gene:

  • Congenital disorder of glycosylation type 1D

From UniProt:

Congenital disorder of glycosylation 1D (CDG1D): A form of congenital disorder of glycosylation, 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:601110]

Cytogenetic Location: 3q27.1, which is the long (q) arm of chromosome 3 at position 27.1

Molecular Location: base pairs 184,242,329 to 184,249,525 on chromosome 3 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 3q27.1, which is the long (q) arm of chromosome 3 at position 27.1
  • CDG1D
  • CDGS4
  • CDGS6
  • D16Ertd36e
  • not
  • Not56
  • NOT56L