MLC1

Chr 22q13.33

modulator of VRAC current 1

Aliases:: MLC, KIAA0027, LVM, VL
MANE:: ENST00000311597.10

OMIM: 605908 ↗NCBI: 23209 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

MLC1 · Q15049

v62025-08-01

Predicted Aligned Error matrix for MLC1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

71.8/ 100

Confident

377 residues

Confidence breakdown

Very high(≥ 90)32%
Confident(70–90)32%
Low(50–70)12%
Very low(< 50)24%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Inherited white matter disorders
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

megalencephalic leukoencephalopathy with subcortical cysts
0.83
hereditary disease
0.41
Seizure
0.37
Bilateral tonic-clonic seizure
0.37
Abnormality of the nervous system
0.34
Macrocephaly
0.27
cerebellar ataxia
0.27
CNS demyelination
0.27
glioblastoma
0.09
astrocytoma (excluding glioblastoma)
0.09

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

Protein function (UniProt)

Membrane protein MLC1

Transmembrane protein mainly expressed in brain astrocytes that may play a role in transport across the blood-brain and brain-cerebrospinal fluid barriers (PubMed:22328087). Regulates the response of astrocytes to hypo-osmosis by promoting calcium influx (PubMed:22328087). May function as regulatory protein of membrane protein complexes such as ion channels (Probable)