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KLHL7 encodes a BTB-Kelch-related protein. Additionally we are shipping KLHL7 Proteins (2) and many more products for this protein.
Showing 10 out of 29 products:
Human Polyclonal KLHL7 Primary Antibody for WB - ABIN527829
Friedman, Ray, Waseem, Johnson, Brooks, Hugosson, Breuer, Branham, Krauth, Bowne, Sullivan, Ponjavic, Gränse, Khanna, Trager, Gieser, Hughbanks-Wheaton, Cojocaru, Ghiasvand, Chakarova, Abrahamson et al.: Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa. ... in American journal of human genetics 2009
Show all 2 Pubmed References
Human Polyclonal KLHL7 Primary Antibody for ICC, IF - ABIN4329238
Stadler, Rexhepaj, Singan, Murphy, Pepperkok, Uhlén, Simpson, Lundberg: Immunofluorescence and fluorescent-protein tagging show high correlation for protein localization in mammalian cells. in Nature methods 2013
KLHL7 is a novel regulator of the nucleolus associated with TUT1 (show TUT1 Antibodies) 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 (show CRLF1 Antibodies)-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 (show CUL3 Antibodies) 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