CLUAP1 Antibody

1. Two variants in CLUAP1 were identified through exome-sequence analysis, Chr16:g.3558407T>G, c.338T>G, p.(Met113Arg) and Chr16:g.3570011C>T, c.688C>T, p.(Arg230Ter). he genetic data show that these variants are present in an affected child, are rare in the population, and result in reduced, but not absent, intraflagellar transport. PMID: 28679688
2. Consistent with the knowledge that CLUAP1 plays an important role in cilia function and that cilia are critical to photoreceptor function, our results indicate that hypomorphic mutations in CLUAP1 can result in dysfunctional photoreceptors without systemic abnormalities. This is the first report linking mutations in CLUAP1 to human disease and establishes CLUAP1 as a candidate Leber congenital amaurosis gene PMID: 26820066
3. inactivation of CLUAP1 may conceivably serve in the future as a novel therapeutic intervention for treatment of colon cancer PMID: 15480429
4. CLUAP1 (clusterin-associated protein 1) is highly expressed in osteosarcoma, ovarian, colon, and lung cancers PMID: 17203229

HGNC: 19009

KEGG: hsa:23059

STRING: 9606.ENSP00000460850

UniGene: Hs.155995