SMPX

Chr Xp22.12

small muscle protein X-linked

Aliases:: DFNX4, Chisel, Csl
MANE:: ENST00000379494.4

OMIM: 300226 ↗NCBI: 23676 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

SMPX · Q9UHP9

v62025-08-01

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

Mean pLDDT

67.4/ 100

Low

88 residues

Confidence breakdown

Very high(≥ 90)1%
Confident(70–90)47%
Low(50–70)38%
Very low(< 50)15%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Distal myopathies
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Monogenic hearing loss
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Disease associations (Open Targets)

hearing loss, X-linked 4
0.67
myopathy, distal, 7, adult-onset, X-linked
0.65
X-linked nonsyndromic hearing loss
0.56
Non-syndromic genetic deafness
0.39
hearing loss disorder
0.38
nonsyndromic genetic hearing loss
0.37
X-linked deafness
0.33
Hearing impairment
0.30
COVID-19
0.29
hereditary disease
0.15

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

Protein function (UniProt)

Small muscular protein

Plays a role in the regulatory network through which muscle cells coordinate their structural and functional states during growth, adaptation, and repair