ALG14

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]

Description

ALG14 UDP-N-acetylglucosaminyltransferase subunit

Tissue specificity

Low tissue specificity

Subcell location

Nucleoplasm, Nucleoli

Predicted location

Membrane

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Predicted membrane proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

1 (94974405 - 95072951)

Ensembl ID

ENSG00000172339  (ver. 103.38)

Orthologs

Mouse Alg14: ENSMUSG00000039887

UniProt

Q96F25

neXtProt

NX_Q96F25

Human splice variants
Mouse splice variants

Protein structure