BAP31 è un gene codificato dal simbolo BCAP31. Altri nomi includono: B-cell receptor-associated protein 31; BCR-associated protein 31; 6C6-AG tumor-associated antigen; Protein CDM; p28; BCAP31; DXS1357E. BAP31 ha una massa di 27.99kDa, una lunghezza di amminoacidi di 246, ed è implicato in Deafness, dystonia, and cerebral hypomyelination.
Offriamo 10 anticorpi contro BAP31, allevati nel Coniglio e Capra, che sono adatti per WB, IHC, ELISA, ICC/IF e IP con campioni derivati da Umano, Topo e Ratto.
Informazioni su geni e proteine
Riepilogo UniProt
Functions as a chaperone protein. Is one of the most abundant endoplasmic reticulum (ER) proteins. Plays a role in the export of secreted proteins in the ER, the recognition of abnormally folded protein and their targeting to the ER associated-degradation (ERAD). Also serves as a cargo receptor for the export of transmembrane proteins. May be involved in CASP8-mediated apoptosis.
Sommario di Entrez
This gene encodes a member of the B-cell receptor associated protein 31 superfamily. The encoded protein is a multi-pass transmembrane protein of the endoplasmic reticulum that is involved in the anterograde transport of membrane proteins from the endoplasmic reticulum to the Golgi and in caspase 8-mediated apoptosis. Microdeletions in this gene are associated with contiguous ABCD1/DXS1375E deletion syndrome (CADDS), a neonatal disorder. Alternative splicing of this gene results in multiple transcript variants. Two related pseudogenes have been identified on chromosome 16.
Specificità del tessuto
Ubiquitous. Highly expressed in neurons and discrete endocrine cells.
Coinvolgimento nella malattia
Deafness, dystonia, and cerebral hypomyelination: An X-linked recessive mental retardation syndrome characterized by almost no psychomotor development, dysmorphic facial features, sensorineural deafness, dystonia, pyramidal signs, and hypomyelination on brain imaging.
Somiglianze di sequenza
Belongs to the BCAP29/BCAP31 family.
Modifica post-translazionale
Cleaved by CASP8 and other caspases.
Posizione cellulare
Endoplasmic reticulum membrane. Endoplasmic reticulum-Golgi intermediate compartment membrane.
May shuttle between the ER and the intermediate compartment/cis-Golgi complex.
