DISEASES

Disease-gene associations mined from literature

Literature associating IQCB1 and Leber congenital amaurosis

IQCB1 [ENSP00000311505]

IQ calmodulin-binding motif-containing protein 1; Involved in ciliogenesis. The function in an early step in cilia formation depends on its association with CEP290/NPHP6. Involved in regulation of the BBSome complex integrity, specifically for presence of BBS2 and BBS5 in the complex, and in ciliary targeting of selected BBSome cargos. May play a role in controlling entry of the BBSome complex to cilia possibly implicating CEP290/NPHP6; Armadillo-like helical domain containing

Synonyms:  IQCB1,  IQCB1p,  hIQCB1,  C9J6Z7,  C9JVC4 ...

Linkouts:  STRING  Pharos  UniProt  OMIM