KY

Chr 3q22.2

kyphoscoliosis peptidase

Aliases:: FLJ33207
MANE:: ENST00000423778.7

OMIM: 605739 ↗NCBI: 339855 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

KY · Q8NBH2

v62025-08-01

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

Mean pLDDT

79.8/ 100

Confident

661 residues

Confidence breakdown

Very high(≥ 90)60%
Confident(70–90)19%
Low(50–70)2%
Very low(< 50)19%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Congenital myopathy
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

myofibrillar myopathy 7
0.65
Abnormality of the skeletal system
0.40
Muscle filaminopathy
0.38
Hernia
0.37
hereditary spastic paraplegia
0.33
hereditary disease
0.19
glomerulonephritis
0.11
smoking initiation
0.10
myasthenia gravis
0.09
Young adult-onset Parkinsonism
0.07

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

Protein function (UniProt)

Kyphoscoliosis peptidase

Probable cytoskeleton-associated protease required for normal muscle growth. Involved in function, maturation and stabilization of the neuromuscular junction. May act by cleaving muscle-specific proteins such as FLNC (By similarity)