KLHL7

Chr 7p15.3

kelch like family member 7

Aliases:: KLHL6, SBBI26, RP42
MANE:: ENST00000339077.10

OMIM: 611119 ↗NCBI: 55975 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

KLHL7 · Q8IXQ5

v62025-08-01

Predicted Aligned Error matrix for KLHL7 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

91.2/ 100

Very high

586 residues

Confidence breakdown

Very high(≥ 90)77%
Confident(70–90)17%
Low(50–70)4%
Very low(< 50)2%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Arthrogryposis
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Retinal disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Glaucoma (developmental)
Structural eye disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

retinitis pigmentosa
0.77
cold-induced sweating syndrome
0.75
Retinal dystrophy
0.50
Cold-induced sweating syndrome 1
0.48
hereditary disease
0.47
Neurodevelopmental delay
0.43
autosomal dominant retinitis pigmentosa
0.37
eye disorder
0.37
Ulnar deviation of the wrist
0.36
Bohring-Opitz syndrome
0.34

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Kelch-like protein 7

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