Inositol polyphosphate 5-phosphatase OCRL: Difference between revisions
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== Oculocerebrorenal syndrome of Lowe == | == Oculocerebrorenal syndrome of Lowe == | ||
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== Mutations in OCRL1 == | == Mutations in OCRL1 == | ||
<Structure load='3QBT' size='350' frame='true' align='right' caption='' scene='' /> | <Structure load='3QBT' size='350' frame='true' align='right' caption='Structure of partial 5P domain and ASH domain of OCRL1 (pink) interacting with Rab8a (light blue). ' scene='' /> | ||
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"/> | ||