This gene encodes the 72 kDa subunit of the signal recognition particle (SRP), a ribonucleoprotein complex that mediates the targeting of secretory proteins to the endoplasmic reticulum (ER). The SRP complex consists of a 7S RNA and 6 protein subunits: SRP9, SRP14, SRP19, SRP54, SRP68, and SRP72, that are bound to the 7S RNA as monomers or heterodimers. SRP has at least 3 distinct functions that can be associated with the protein subunits: signal recognition, translational arrest, and ER membrane targeting by interaction with the docking protein. Mutations in this gene are associated with familial bone marrow failure. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012].
Kirwan, Walne, Plagnol, Velangi, Ho, Hossain, Vulliamy, Dokal: "Exome sequencing identifies autosomal-dominant SRP72 mutations associated with familial aplasia and myelodysplasia." in: American journal of human genetics, Vol. 90, Issue 5, pp. 888-92, (2012) (PubMed).
Fernyhough, Gallagher, Averill, Priestley, Hounsom, Patel, Tomlinson: "Aberrant neurofilament phosphorylation in sensory neurons of rats with diabetic neuropathy." in: Diabetes, Vol. 48, Issue 4, pp. 881-9, (1999) (PubMed).
Kuijpers, Tonnaer, Peters, Ramaekers: "Expression of intermediate filament proteins in the mature inner ear of the rat and guinea pig." in: Hearing research, Vol. 52, Issue 1, pp. 133-46, (1991) (PubMed).
Aliases for SRP72 抗体
Signal recognition particle protein 72 (Srp72) 抗体 signal recognition particle 72 (SRP72) 抗体 signal recognition particle 72kDa (srp72) 抗体 signal recognition particle subunit Srp72 (predicted) (srp72) 抗体 part of the signal recognition particle (SRP) ribonucleoprotein (RNP) complex (SRP72) 抗体 type II secretory pathway family (SRP72) 抗体 signal recognition particle 72 (srp72) 抗体 signal recognition particle 72 (Srp72) 抗体 signal recognition particle 72kDa S homeolog (srp72.S) 抗体 72kDa 抗体 5730576P14Rik 抗体 AI132477 抗体 BC019196 抗体 BMFF 抗体 C77589 抗体 CG5434 抗体 Dmel\\CG5434 抗体 wu:fi03d11 抗体