LMPD Database

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LMP012377

UniProt Annotations

Entry Information
Gene Nameisoprenoid synthase domain containing
Protein Entry
UniProt IDA4D126
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=A4D126-1; Sequence=Displayed; Name=2; IsoId=A4D126-2; Sequence=VSP_044044; Note=No experimental confirmation available.;
DiseaseMuscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A7 (MDDGA7) [MIM:614643]: An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound mental retardation, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease. {ECO:0000269|PubMed:22522420, ECO:0000269|PubMed:22522421, ECO:0000269|PubMed:23217329}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionRequired for protein O-linked mannosylation. Probably acts as a nucleotidyltransferase involved in synthesis of a nucleotide sugar. Required for dystroglycan O-mannosylation
PathwayProtein modification; protein glycosylation.
Sequence CautionSequence=EAL24288.1; Type=Erroneous gene model prediction; Evidence= ;
SimilarityBelongs to the IspD family
Tissue SpecificityUbiquitously expressed, with high expression in brain