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KLHL7 encodes a BTB-Kelch-related protein.
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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
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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
We have expanded the clinical spectrum of KLHL7 autosomal recessive variants by describing a syndrome with features overlapping CS/CISS1 (显示 CRLF1 抗体) and BOS.
KLHL6 was positive mainly in B-cell neoplasms of germinal center derivation, including 95% of follicular lymphomas (106/112)
Abnormal expression of the KLHL6 oncogene (显示 RAB1A 抗体) promoted gastric cancer progression in vitro and in vivo, and its expression level in tumor tissue was found to be of prognostic value.
KLHL7 is a novel regulator of the nucleolus associated with TUT1 (显示 TUT1 抗体) ubiquitination, and pathogenic KLHL7 mutants may provide valuable information to elucidate a mechanism of retinitis pigmentosa etiology.
report that KLHL6, which is recurrently mutated in B cell lymphomas, is an off-target of the normal somatic hypermutation process taking place in germinal center (GC) B (显示 NPR2 抗体) cells leaving open whether, despite the lack of impact of Klhl6 deficiency on GC B (显示 NPR2 抗体) cell expansion, mutants could contribute to the oncogenic process
data further support the pathogenic role of KLHL7 mutations in a CS/CISS1 (显示 CRLF1 抗体)-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 (显示 CUL3 抗体) 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.
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 protein 6
, kelch-like protein KLHL6
, kelch-like 7
, kelch-like protein 7
, BTB/POZ domain containing protein
, LOW QUALITY PROTEIN: kelch-like protein 7