PRPF31 ist ein Gen, das durch das Symbol PRPF31 kodiert wird. Im Allgemeinen auch bezeichnet als: U4/U6 small nuclear ribonucleoprotein Prp31; Pre-mRNA-processing factor 31; Serologically defined breast cancer antigen NY-BR-99; U4/U6 snRNP 61 kDa protein; Protein 61K; PRP31. PRPF31 hat eine Masse von 55.46kDa, eine Aminosäurelänge von 499, und ist an Retinitis pigmentosa 11 beteiligt.
Wir bieten 6 antikörper gegen PRPF31, aufgewachsen in Kaninchen und Ziege, welche geeignet sind für WB, IHC and ELISA mit Proben abgeleitet von Human, Maus und Ratte.
Gen- und Proteininformationen
UniProt Zusammenfassung
Involved in pre-mRNA splicing as component of the spliceosome (PubMed:11867543, PubMed:28781166). Required for the assembly of the U4/U5/U6 tri-snRNP complex, one of the building blocks of the spliceosome (PubMed:11867543).
Entrez Zusammenfassung
This gene encodes a component of the spliceosome complex and is one of several retinitis pigmentosa-causing genes. When the gene product is added to the spliceosome complex, activation occurs.
Gewebespezifität
Ubiquitously expressed.
Rolle bei Krankheiten
Retinitis pigmentosa 11: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
Sequenzähnlichkeiten
Belongs to the PRP31 family.
Zellort
Nucleus. Nucleus speckle. Nucleus > Cajal body.
Predominantly found in speckles and in Cajal bodies.
