ALG14 gene

ALG14, UDP-N-acetylglucosaminyltransferase subunit

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

From NCBI Gene:

This gene is a member of the glycosyltransferase 1 family. The encoded protein and ALG13 are thought to be subunits of UDP-GlcNAc transferase, which catalyzes the first two committed steps in endoplasmic reticulum N-linked glycosylation. Mutations in this gene have been linked to congenital myasthenic syndrome (CMSWTA). Alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2015]

From UniProt:

May be involved in protein N-glycosylation. May play a role in the second step of the dolichol-linked oligosaccharide pathway. May anchor the catalytic subunit ALG13 to the ER.

From NCBI Gene:

  • Myasthenic syndrome, congenital, 15

From UniProt:

Myasthenic syndrome, congenital, 15 (CMS15): A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness. [MIM:616227]

Cytogenetic Location: 1p21.3, which is the short (p) arm of chromosome 1 at position 21.3

Molecular Location: base pairs 94,981,565 to 95,072,974 on chromosome 1 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 1p21.3, which is the short (p) arm of chromosome 1 at position 21.3