Identity
HGNC
LOCATION
7p15.3
LOCUSID
ALIAS
CISS3,KLHL6,PERCHING,SBBI26
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 55975
MIM: 611119
HGNC: 15646
Ensembl: ENSG00000122550
Variants:
dbSNP: 55975
ClinVar: 55975
TCGA: ENSG00000122550
COSMIC: KLHL7
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 35699517 | 2022 | Clinical and molecular genetic findings of Crisponi/cold-induced sweating syndrome (CS/CISS) spectrum in patients from Turkey. | 0 |
| 35699517 | 2022 | Clinical and molecular genetic findings of Crisponi/cold-induced sweating syndrome (CS/CISS) spectrum in patients from Turkey. | 0 |
| 31953236 | 2020 | A novel PTC mutation in the BTB domain of KLHL7 gene in two patients with Bohring-Opitz syndrome-like features. | 1 |
| 31953236 | 2020 | A novel PTC mutation in the BTB domain of KLHL7 gene in two patients with Bohring-Opitz syndrome-like features. | 1 |
| 30300710 | 2019 | Two siblings with a novel nonsense variant provide further delineation of the spectrum of recessive KLHL7 diseases. | 2 |
| 31856884 | 2019 | Novel mutations in the 3-box motif of the BACK domain of KLHL7 associated with nonsyndromic autosomal dominant retinitis pigmentosa. | 3 |
| 30300710 | 2019 | Two siblings with a novel nonsense variant provide further delineation of the spectrum of recessive KLHL7 diseases. | 2 |
| 31856884 | 2019 | Novel mutations in the 3-box motif of the BACK domain of KLHL7 associated with nonsyndromic autosomal dominant retinitis pigmentosa. | 3 |
| 29633055 | 2018 | Clinical and biological roles of Kelch-like family member 7 in breast cancer: a marker of poor prognosis. | 4 |
| 29633055 | 2018 | Clinical and biological roles of Kelch-like family member 7 in breast cancer: a marker of poor prognosis. | 4 |
| 29032201 | 2017 | KLHL7 promotes TUT1 ubiquitination associated with nucleolar integrity: Implications for retinitis pigmentosa. | 10 |
| 29074562 | 2017 | Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype. | 3 |
| 29032201 | 2017 | KLHL7 promotes TUT1 ubiquitination associated with nucleolar integrity: Implications for retinitis pigmentosa. | 10 |
| 29074562 | 2017 | Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype. | 3 |
| 27392078 | 2016 | Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa. | 11 |
Citation
Dessen P
KLHL7 (kelch like family member 7)
Atlas Genet Cytogenet Oncol Haematol. 2007-02-01
Online version: http://atlasgeneticsoncology.org/gene/46434/klhl7-(kelch-like-family-member-7)
