ALG8 gene

ALG8, alpha-1,3-glucosyltransferase

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

From NCBI Gene:

This gene encodes a member of the ALG6/ALG8 glucosyltransferase family. The encoded protein catalyzes the addition of the second glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation of proteins. Mutations in this gene have been associated with congenital disorder of glycosylation type Ih (CDG-Ih). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

From UniProt:

Adds the second glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation. Transfers glucose from dolichyl phosphate glucose (Dol-P-Glc) onto the lipid-linked oligosaccharide Glc(1)Man(9)GlcNAc(2)-PP-Dol.

From NCBI Gene:

  • Congenital disorder of glycosylation type 1H

From UniProt:

Congenital disorder of glycosylation 1H (CDG1H): 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:608104]

Cytogenetic Location: 11q14.1, which is the long (q) arm of chromosome 11 at position 14.1

Molecular Location: base pairs 78,100,942 to 78,139,660 on chromosome 11 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 11q14.1, which is the long (q) arm of chromosome 11 at position 14.1