Product Overview
Description
CEP78 was identified in a mass-spectometry-based proteomic analysis of human centrosomes; however the role of CEP78 in the centrosome remains uncharacterized. CEP78 has also been identified as an antigen recognized by treatment-associated auto-antibodies in an immunoscreen of a prostate cancer cDNA expression library.
Applications
Antibody Competition
Nature
Recombinant Protein
Sequence
ALETNTTLVVLDIRKNPLIDHSMMKAVIKKVLQNGRSAKSEYQWITSPSVKEPSKTAKQKRRTIILGSGHKGKATIRIGLATKKPVSSGRK
Predicted Molecular Weight
28 kDa
Target Information
Alternative Names
C9orf81; centrosomal protein 78kDa; centrosomal protein of 78 kDa; Cep78; chromosome 9 open reading frame 81; FLJ12643; FLJ52093; IP63; MGC135040
Protein Function
May be required for efficient PLK4 centrosomal localization and PLK4-induced overduplication of centrioles. May play a role in cilium biogenesis.
Involvement in Disease
Cone-rod dystrophy and hearing loss 1 (CRDHL1): 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
PBS and 1M Urea, pH 7.4.
Shipping
Shipped on dry ice.
