ALG9 gene

ALG9 alpha-1,2-mannosyltransferase

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

From NCBI Gene:

This gene encodes an alpha-1,2-mannosyltransferase enzyme that functions in lipid-linked oligosaccharide assembly. Mutations in this gene result in congenital disorder of glycosylation type Il. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]

From UniProt:

Catalyzes the transfer of mannose from Dol-P-Man to lipid-linked oligosaccharides.

From NCBI Gene:

  • ALG9 congenital disorder of glycosylation
  • Gillessen-Kaesbach-Nishimura syndrome

From UniProt:

Congenital disorder of glycosylation 1L (CDG1L): 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:608776]

A chromosomal aberration involving ALG9 is found in a family with bipolar affective disorder. Translocation t(9;11)(p24;q23). However, common variations in ALG9 do not play a major role in predisposition to bipolar affective disorder.

Gillessen-Kaesbach-Nishimura syndrome (GIKANIS): A rare autosomal recessive syndrome characterized by severe skeletal dysplasia, facial dysmorphic features, polycystic kidney disease and other visceral malformations. It may be lethal in utero or early in life. The skeletal features uniformly comprise a round pelvis, mesomelic shortening of the upper limbs and defective ossification of the cervical spine. [MIM:263210]

Cytogenetic Location: 11q23.1, which is the long (q) arm of chromosome 11 at position 23.1

Molecular Location: base pairs 111,776,096 to 111,871,581 on chromosome 11 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: 11q23.1, which is the long (q) arm of chromosome 11 at position 23.1
  • CDG1L
  • DIBD1
  • LOH11CR1J