CLCN1

Chr 7q34

chloride voltage-gated channel 1

Aliases:: CLC1, ClC-1
MANE:: ENST00000343257.7

OMIM: 118425 ↗NCBI: 1180 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

CLCN1 · P35523

v62025-08-01

Predicted Aligned Error matrix for CLCN1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

68.4/ 100

Low

988 residues

Confidence breakdown

Very high(≥ 90)29%
Confident(70–90)31%
Low(50–70)8%
Very low(< 50)32%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Skeletal Muscle Channelopathies
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal muscle channelopathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paroxysmal central nervous system disorders
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Disease associations (Open Targets)

myotonia congenita, autosomal recessive
0.76
Thomsen and Becker disease
0.75
Myotonia
0.59
Tip-toe gait
0.51
hyperkalemic periodic paralysis
0.46
Abnormality of the musculature
0.45
Smith-Lemli-Opitz syndrome
0.43
hereditary disease
0.42
EMG: myotonic discharges
0.41
hypokalemic periodic paralysis, type 1
0.34

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

Protein function (UniProt)

Chloride channel protein 1

Voltage-gated chloride channel involved in skeletal muscle excitability. Generates most of the plasma membrane chloride conductance in skeletal muscle fibers, stabilizes the resting membrane potential and contributes to the repolarization phase during action potential firing (PubMed:12456816, PubMed:16027167, PubMed:22521272, PubMed:22641783, PubMed:26007199, PubMed:26502825, PubMed:26510092, PubMed:7951242, PubMed:8112288, PubMed:8130334, PubMed:9122265, PubMed:9565403, PubMed:9736777). Forms a homodimeric channel where each subunit has its own ion conduction pathway. Conducts double-barreled currents controlled by two types of gates, two fast glutamate gates that control each subunit independently and a slow common gate that opens and shuts off both subunits simultaneously. Has a significant open probability at muscle resting potential and is further activated upon membrane depolarization (PubMed:10051520, PubMed:10962018, PubMed:29809153, PubMed:31022181). Permeable to small monovalent anions with ion selectivity for chloride > thiocyanate > bromide > nitrate > iodide (PubMed:9122265, PubMed:9565403)