Ontology highlight
ABSTRACT:
INSTRUMENT(S): TripleTOF 5600
ORGANISM(S): Homo Sapiens (ncbitaxon:9606)
SUBMITTER: Dr Jan Johannes Enghild
PROVIDER: MSV000080219 | MassIVE | Tue Oct 04 13:28:00 BST 2016
SECONDARY ACCESSION(S): PXD001997
REPOSITORIES: MassIVE
Poulsen Ebbe Toftgaard ET Nielsen Nadia Sukusu NS Jensen Morten M MM Nielsen Esben E Hjortdal Jesper J Kim Eung Kweon EK Enghild Jan J JJ
Proteomics 20160103 3
More than 60 mutations in transforming growth factor beta-induced protein (TGFBIp) have been reported in humans causing a variety of phenotypic protein aggregates in the cornea, commonly termed corneal dystrophies. One mutation, generating an arginine to histidine amino acid substitution at position 124 in mature TGFBIp leads to granular corneal dystrophy type 2 (GCD2). Homozygous GCD2 cases develop massive protein accumulation early in life whereas heterozygous GCD2 cases become affected much l ...[more]