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Search results 1 to 1 out of 1 for Iqcb1

Category restricted to ProteinDomain (x)

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Category: ProteinDomain
Type Details Score
Protein Domain
Type: Family
Description: IQ calmodulin-binding motif-containing protein 1 (IQCB1, also called NPHP5) is involved in ciliogenesis []. Mutations in IQCB1 gene cause Senior-Loken syndrome 5 (SLSN5), which is a renal-retinal disorder characterised by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease [].