NP_001026880.2
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
kelch-like protein 7 isoform 1
NCBI Official Synonym Full Names
kelch-like family member 7
NCBI Protein Information
kelch-like protein 7
UniProt Protein Name
Kelch-like protein 7
UniProt Entry Name
KLHL7_HUMAN
NCBI Summary for KLHL7
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 Comments for KLHL7
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: nucleoplasm; cytoplasm; nucleolus; plasma membrane; nucleus
Molecular Function: protein homodimerization activity
Biological Process: protein ubiquitination
Disease: Retinitis Pigmentosa 42
Research Articles on KLHL7
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Products associated with anti-KLHL7 antibody
Diseases associated with anti-KLHL7 antibody
Organs/Tissues associated with anti-KLHL7 antibody
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