AGRN

This gene encodes one of several proteins that are critical in the development of the neuromuscular junction (NMJ), as identified in mouse knock-out studies. The encoded protein contains several laminin G, Kazal type serine protease inhibitor, and epidermal growth factor domains. Additional post-translational modifications occur to add glycosaminoglycans and disulfide bonds. In one family with congenital myasthenic syndrome affecting limb-girdle muscles, a mutation in this gene was found. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2015]

Description

Agrin

Tissue specificity

Low tissue specificity

Subcell location

Plasma membrane, Cytosol

Predicted location

Intracellular, Secreted to extracellular matrix

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Plasma proteins
Potential drug targets
Predicted intracellular proteins
Predicted secreted proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)
Transporters

Chromosome

1 (1020120 - 1056118)

Ensembl ID

ENSG00000188157  (ver. 103.38)

Orthologs

Mouse Agrn: ENSMUSG00000041936

UniProt

O00468

neXtProt

NX_O00468

Human splice variants
Mouse splice variants

Protein structure