KLHL40

Chr 3p22.1

kelch like family member 40

Aliases:: SRYP, NEM8
MANE:: ENST00000287777.5

OMIM: 615340 ↗NCBI: 131377 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

KLHL40 · Q2TBA0

v62025-08-01

Predicted Aligned Error matrix for KLHL40 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

89.4/ 100

Confident

621 residues

Confidence breakdown

Very high(≥ 90)76%
Confident(70–90)18%
Low(50–70)1%
Very low(< 50)5%

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
Congenital myopathy
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Fetal hydrops
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

nemaline myopathy 8
0.83
severe congenital nemaline myopathy
0.47
Abnormality of the skeletal system
0.43
nemaline myopathy
0.38
Jaundice
0.29
hereditary disease
0.19
Emery-Dreifuss muscular dystrophy
0.08
Congenital myasthenic syndromes
0.08
inclusion body myopathy with Paget disease of bone and frontotemporal dementia
0.07
Distal myopathy, Nonaka type
0.07

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

Protein function (UniProt)

Kelch-like protein 40

Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex that acts as a key regulator of skeletal muscle development (PubMed:23746549). The BCR(KLHL40) complex acts by mediating ubiquitination and degradation of TFDP1, thereby regulating the activity of the E2F:DP transcription factor complex (By similarity). Promotes stabilization of LMOD3 by acting as a negative regulator of LMOD3 ubiquitination; the molecular process by which it negatively regulates ubiquitination of LMOD3 is however unclear (By similarity)