PRPF31 est un gène codé par le symbole PRPF31. Communément appelé aussi: 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 a une masse de 55.46kDa, une longueur d'acide aminé de 499, et est impliqué dans Retinitis pigmentosa 11.
Nous proposons 6 des anticorps contre PRPF31, élevé dans Lapin et Chèvre, qui sont appropriés pour le WB, IHC et ELISA avec des échantillons dérivés de Humain, Souris et Rat.
Informations sur les Gènes et les Protéines
Résumé UniProt
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).
Résumé Entrez
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.
Spécificité tissulaire
Ubiquitously expressed.
Implication dans la maladie
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.
Similitudes de séquence
Belongs to the PRP31 family.
Localisation cellulaire
Nucleus. Nucleus speckle. Nucleus > Cajal body.
Predominantly found in speckles and in Cajal bodies.
