KLHL7 cdna clone
KLHL7 cDNA Clone
NCBI and Uniprot Product Information
NCBI Description
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]
Uniprot Description
KLHL7: Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex. The BCR(KLHL7) complex acts by mediating ubiquitination and subsequent degradation of substrate proteins. Probably mediates 'Lys-48'-linked ubiquitination. Defects in KLHL7 are the cause of retinitis pigmentosa type 42 (RP42). A retinal dystrophy belonging to the group of pigmentary retinopathies. RP is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. 4 isoforms of the human protein are produced by alternative splicing.
Chromosomal Location of Human Ortholog: 7p15.3
Cellular Component: cytoplasm; nucleolus; nucleoplasm; nucleus; plasma membrane
Molecular Function: identical protein binding; protein binding; protein homodimerization activity; ubiquitin-protein ligase activity
Biological Process: protein ubiquitination; protein ubiquitination during ubiquitin-dependent protein catabolic process
Disease: Retinitis Pigmentosa 42
Research Articles on KLHL7
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Product Notes
The KLHL7 klhl7 (Catalog #AAA1269784) is a cDNA Clone and is intended for research purposes only. The product is available for immediate purchase. The amino acid sequence is listed below: atgctgggag ggactgattg cagaaccttc ttgacaagcc acataaatct aaagaaaacg ttgtgtgacg tgatcctcat ggtccaggaa agaaagatac ctgctcatcg tgttgttctt gctgcagcca gtcatttttt taacttaatg ttcacaacta acatgcttga atcaaagtcc tttgaagtag aactcaaaga tgctgaacct gatattattg aacaactggt ggaatttgct tatactgcta gaatttccgt gaatagcaac aatgttcagt ctttgttgga tgcagcaaac caatatcaga ttgaacctgt gaagaaaatg tgtgttgatt ttttgaaaga acaagttgat gcttcaaatt gtcttggaga agcagaaaaa gttgatcaga gccttccaga gtgtggtatg cttttcactg tgtga. It is sometimes possible for the material contained within the vial of "KLHL7, cDNA Clone" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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