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KLHL7 encodes a BTB-Kelch-related protein. Zusätzlich bieten wir Ihnen KLHL7 Antikörper (29) und viele weitere Produktgruppen zu diesem Protein an.
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KLHL7 is a novel regulator of the nucleolus associated with TUT1 (zeige TUT1 Proteine) ubiquitination, and pathogenic KLHL7 mutants may provide valuable information to elucidate a mechanism of retinitis pigmentosa etiology.
data further support the pathogenic role of KLHL7 mutations in a CS/CISS1 (zeige CRLF1 Proteine)-like phenotype--but they do not explain all their clinical manifestations and highlight the high phenotypic heterogeneity associated with mutations in KLHL7
The phenotypes are similar among patients with 3 types of KLHL7 mutations (c.458C>T, c.449G>A, and c.457G>A).
KLHL7 forms a dimer, assembles with Cul3 (zeige CUL3 Proteine) through its BTB and BACK domains, and exerts E3 activity.
Observed in 2 Scandinavian families to date, KLHL7 mutation has recently been associated with autosomal dominant retinitis pigmentosa.
The present results indicate that KLHL7 antibodies are associated with various cancers, and in some patients also with neurological disease. Whether KLHL7 antibodies can be used as paraneoplastic markers for PNS remains to be determined.
Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa.
This gene encodes a BTB-Kelch-related protein. The encoded protein may be involved in protein degradation. Mutations in this gene have been associated with retinitis pigmentosa 42.
, kelch-like 7
, kelch-like protein 7
, BTB/POZ domain containing protein
, LOW QUALITY PROTEIN: kelch-like protein 7