Inositol polyphosphate 5-phosphatase OCRL: Difference between revisions
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== Mutations in OCRL1 == | == Mutations in OCRL1 == | ||
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Given the important functions of OCRL1 and the amount of its interaction partners it is not surprising that point mutations can cause the serious OCRL. Although, some mutations cause only a mild type of OCRL which is called Dent-2 disease.<ref name="com">PMID: 31967472</ref> This diseases is caused by different mutations in all domains of OCRL1 just like OCRL.<ref name="china">PMID: 31674016</ref><raf name="com"/><ref name="FH">PMID: 21666675</ref> However, it is characterized solely by heterogeneous kidney malfunctions.<ref name="dent">PMID: 32860533</ref> Even though, certain continuum between the two diseases has been suggested it is unclear what causes the different symptoms of various mutations.<ref name="continum">PMID: 21031565</ref> As to the OCRL1 mutations causing OCRL so far only two have been studied closely. It is the substitution of F by V at the position 668 (F668V) and the substitution of N by K at the position 591 (N591K).<ref name="main"/><ref name="com"/> | Given the important functions of OCRL1 and the amount of its interaction partners it is not surprising that point mutations can cause the serious OCRL. Although, some mutations cause only a mild type of OCRL which is called Dent-2 disease.<ref name="com">PMID: 31967472</ref> This diseases is caused by different mutations in all domains of OCRL1 just like OCRL.<ref name="china">PMID: 31674016</ref><raf name="com"/><ref name="FH">PMID: 21666675</ref> However, it is characterized solely by heterogeneous kidney malfunctions.<ref name="dent">PMID: 32860533</ref> Even though, certain continuum between the two diseases has been suggested it is unclear what causes the different symptoms of various mutations.<ref name="continum">PMID: 21031565</ref> As to the OCRL1 mutations causing OCRL so far only two have been studied closely. It is the substitution of F by V at the position 668 (F668V) and the substitution of N by K at the position 591 (N591K).<ref name="main"/><ref name="com"/> | ||