Product Overview
Description
CLPP-00150445 is recombinant CEP250 protein, N-Term
Applications
Western Blot, ELISA, Protein Array, SDS-PAGE
Nature
Partial Recombinant Protein
Sequence
LTVDWSRARDELMRKESQWQMEQEFFKGYLKGEHGRLLSLWREVVTFRRHFLEMKSATDRDLMELKAEHVRLSGSLLTCCLRLTVGAQSREPNGSGRMDG
Predicted Molecular Weight
36.63 kDa
Target Information
Alternative Names
250-KD; centrosomal Nek2-associated protein 1,250 kDa centrosomal protein; centrosomal protein 250kDa; centrosome associated protein; centrosome-associated protein CEP250; CEP2; CNAP1; C-NAP1; MGC88542
Protein Function
May be involved in ciliogenesis. Probably plays an important role in centrosome cohesion during interphase. Recruits CCDC102B to the proximal ends of centrioles.
Involvement in Disease
Cone-rod dystrophy and hearing loss 2 (CRDHL2): An autosomal recessive disease defined by the association of progressive cone-rod dystrophy with sensorineural hearing loss. Cone-rod dystrophy is characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. The disease is caused by variants affecting the gene represented in this entry.
Shipping & Handling
Constituents
50 mM Tris-HCI, 10 mM reduced Glutathione, pH 8.0 in the elution buffer.
Shipping
Shipped on dry ice.
