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. [provided by RefSeq, Feb 2010].
Angius, Uva, Buers, Oppo, Puddu, Onano, Persico, Loi, Marcia, Höhne, Cuccuru, Fotia, Deiana, Marongiu, Atalay, Inan, El Assy, Smit, Okur, Boduroglu, Utine, Kılıç, Zampino, Crisponi, Crisponi, Rutsch: "Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa." in: American journal of human genetics, Vol. 99, Issue 1, pp. 236-45, (2016) (PubMed).
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, Vol. 10, Issue 4, pp. 315-23, (2013) (PubMed).
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, Vol. 84, Issue 6, pp. 792-800, (2009) (PubMed).
Aliases for KLHL7 抗体
kelch like family member 7 (KLHL7) 抗体 kelch-like 7 (Klhl7) 抗体 kelch-like family member 7 (Klhl7) 抗体 kelch like family member 7 S homeolog (klhl7.S) 抗体 kelch like family member 7 (Klhl7) 抗体 2700038B03Rik 抗体 D5Ertd363e 抗体 KLHL6 抗体 SBBI26 抗体