From NCBI Gene: Congenital disorder of glycosylation type 1JCongenital myasthenic syndrome 13From UniProt: Myasthenic syndrome, congenital, 13 (CMS13): 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. CMS13 is characterized by muscle weakness mostly affecting proximal limb muscles, minimal involvement of facial, ocular and bulbar muscles, and tubular aggregates present on muscle biopsy. Symptoms include difficulty walking and frequent falls. Younger patients show hypotonia and poor head control. Neurophysiological features indicate a disorder of neuromuscular transmission on electromyography. [MIM:614750] Congenital disorder of glycosylation 1J (CDG1J): 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:608093]

     From NCBI Gene: The protein encoded by this gene is an enzyme that catalyzes the first step in the dolichol-linked oligosaccharide pathway for glycoprotein biosynthesis. This enzyme belongs to the glycosyltransferase family 4. This protein is an integral membrane protein of the endoplasmic reticulum. The congenital disorder of glycosylation type Ij is caused by mutation in the gene encoding this enzyme. [provided by RefSeq, Jul 2008] From UniProt: Catalyzes the initial step in the synthesis of dolichol-P-P-oligosaccharides.

The following transcription factors affect gene expression:

• GR
• GR-alpha
• STAT5A

Molecular Function:

• Phospho-N-Acetylmuramoyl-Pentapeptide-Transferase Activity
• Transferase Activity, Transferring Glycosyl Groups
• Udp-N-Acetylglucosamine-Dolichyl-Phosphate N-Acetylglucosaminephosphotransferase Activity
• Udp-N-Acetylglucosamine-Lysosomal-Enzyme N-Acetylglucosaminephosphotransferase Activity

Biological Processes:

• Dolichol Biosynthetic Process
• Dolichol-Linked Oligosaccharide Biosynthetic Process
• Protein N-Linked Glycosylation
• Protein Oligomerization
• Udp-N-Acetylglucosamine Metabolic Process