MLC1

Chr 22AR

modulator of VRAC current 1

Also known as: LVM, MLC, VL

NCBI Gene: 23209 ENSG00000100427 UniProt: Q15049 OMIM: 605908

This gene encodes a transmembrane protein expressed in brain astrocytes that regulates astrocyte response to hypo-osmotic conditions and may function in transport across blood-brain and cerebrospinal fluid barriers. Mutations cause megalencephalic leukoencephalopathy with subcortical cysts, a progressive white matter disorder typically presenting in infancy with macrocephaly. The condition follows autosomal recessive inheritance.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

The function of this gene product is unknown; however, homology to other proteins suggests that it may be an integral membrane transporter. Mutations in this gene have been associated with megalencephalic leukoencephalopathy with subcortical cysts, an autosomal recessive neurological disorder. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Megalencephalic leukoencephalopathy with subcortical cysts 1MIM #604004

Clinical highlights

Gene-disease validity (ClinGen)

megalencephalic leukoencephalopathy with subcortical cysts 1 · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.16

LOEUF

LOF

Mechanism· G2P

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GeneReview available — MLC1