KLHL41

Chr 2q31.1

kelch like family member 41

Aliases:: SARCOSIN, Krp1
MANE:: ENST00000284669.2

OMIM: 607701 ↗NCBI: 10324 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

KLHL41 · O60662

v62025-08-01

Predicted Aligned Error matrix for KLHL41 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

93.2/ 100

Very high

606 residues

Confidence breakdown

Very high(≥ 90)91%
Confident(70–90)6%
Low(50–70)1%
Very low(< 50)3%

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
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

nemaline myopathy 9
0.77
nemaline myopathy
0.53
typical nemaline myopathy
0.38
childhood-onset nemaline myopathy
0.37
severe congenital nemaline myopathy
0.37
intermediate nemaline myopathy
0.37
hereditary disease
0.19
metabolic syndrome
0.07
GNE myopathy
0.04
Distal myopathy, Nonaka type
0.04

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

Protein function (UniProt)

Kelch-like protein 41

Involved in skeletal muscle development and differentiation. Regulates proliferation and differentiation of myoblasts and plays a role in myofibril assembly by promoting lateral fusion of adjacent thin fibrils into mature, wide myofibrils. Required for pseudopod elongation in transformed cells