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Gene

MLC1

modulator of VRAC current 1

Summary

Cytogenetic location
22q13.33
Coordinates
Chromosome 22: 50,059,391–50,085,426 (GRCh38)
Exons
12 exons across 26 kb
Protein
377 amino acids
Also known as
MLC, KIAA0027, LVM, VL
MANE Select transcript
ENST00000311597.10NM_015166.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Megalencephalic Leukoencephalopathy with Subcortical Cysts

    • Megalencephalic leukoencephalopathy with subcortical cysts (MLC1, HEPACAM, GPRC5B)

      Causes an enlarged head from infancy with slowly progressive problems with balance, spasticity and sometimes seizures; some HEPACAM forms improve over time (remitting MLC).

      • ClinGen rates the link definitive
      • 7 GenCC submitters rate it definitive or strong
      What knowing changes

      Diagnosis explains the brain imaging findings, guides seizure and supportive care and clarifies risk for relatives.

Broader groupings

  • Other Inherited Leukodystrophies

    • Leukodystrophy (other and unspecified types)

      One of 80 genes linked to it

      Inherited conditions that damage or prevent the normal formation of myelin, the white matter of the brain and spinal cord. Different types follow autosomal recessive, autosomal dominant or X-linked inheritance depending on the gene involved.

      • ClinGen rates the link definitive
      • 7 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing the specific genetic cause can end a diagnostic search, guide supportive care and surveillance, show whether a specific treatment exists, and allow testing of relatives.

How MLC1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 22, with a bracket where MLC1 sits. MLC1 and 30 genes near it on chromosome 22, from 49,572,409 to 50,572,408.Chromosome 2222q13.33p13p12p11.2p11.1q11.1q11.21q11.22q11.23q12.1q12.2q12.3q13.1q13.2q13.31q13.32q13.3349.6 Mb49.8 Mb50 Mb50.2 Mb50.4 MbBRD1: 49,773,278–49,827,946, reverse strandBRD1ZBED4: 49,853,827–49,897,383, forward strandZBED4ALG12: 49,854,503–49,918,473, reverse strandALG12CRELD2: 49,917,989–49,927,544, forward strandCRELD2PIM3: 49,956,491–49,991,795, forward strandPIM3IL17REL: 49,991,811–50,012,765, reverse strandIL17RELTTLL8: 50,018,575–50,058,298, reverse strandTTLL8MLC1: 50,059,391–50,085,426, reverse strandMLC1MOV10L1: 50,090,002–50,161,690, forward strandMOV10L1PANX2: 50,170,458–50,180,295, forward strandPANX2TRABD: 50,184,717–50,199,600, forward strandTRABDSELENOO: 50,200,994–50,217,616, forward strandSELENOOTUBGCP6: 50,217,621–50,245,033, reverse strandTUBGCP6HDAC10: 50,245,183–50,251,407, reverse strandHDAC10MAPK12: 50,245,186–50,261,851, reverse strandMAPK12MAPK11: 50,263,703–50,270,767, reverse strandPLXNB2: 50,274,976–50,307,695, reverse strandDENND6B: 50,308,989–50,327,661, reverse strandDENND6BPPP6R2: 50,330,659–50,445,090, forward strandPPP6R2SBF1: 50,443,219–50,483,923, reverse strandSBF1ADM2: 50,481,516–50,486,440, forward strandADM2MIOX: 50,486,784–50,490,648, forward strandMIOXLMF2: 50,502,947–50,507,751, reverse strandLMF2NCAPH2: 50,508,127–50,524,781, forward strandSCO2: 50,523,564–50,526,461, reverse strandSCO2TYMP: 50,525,752–50,530,326, reverse strandCIMAP1B: 50,529,710–50,532,590, reverse strandKLHDC7B: 50,545,899–50,551,023, forward strandSYCE3: 50,551,109–50,562,954, reverse strandSYCE3CPT1B: 50,567,624–50,578,681, reverse strandCPT1BCHKB-CPT1B: 50,568,869–50,582,965, reverse strandDiagram of MLC1: 12 exons on the reverse strand of chromosome 22Exon 11: 11 known disease-causing sitesExon 10: 10 known disease-causing sitesExon 9: 6 known disease-causing sitesExon 8: 5 known disease-causing sitesExon 7: 3 known disease-causing sitesExon 6: 6 known disease-causing sitesExon 5: 11 known disease-causing sitesExon 4: 4 known disease-causing sitesExon 3: 10 known disease-causing sitesExon 2: 7 known disease-causing sitesExon 12: 50,059,391–50,061,657, 2,267 basesExon 11: 50,064,034–50,064,198, 165 basesExon 10: 50,068,433–50,068,555, 123 basesExon 9: 50,070,527–50,070,583, 57 basesExon 8: 50,074,216–50,074,332, 117 basesExon 7: 50,076,841–50,076,912, 72 basesExon 6: 50,077,401–50,077,502, 102 basesExon 5: 50,079,918–50,080,019, 102 basesExon 4: 50,080,344–50,080,397, 54 basesExon 3: 50,083,084–50,083,173, 90 basesExon 2: 50,084,726–50,084,961, 236 basesExon 1: 50,085,355–50,085,426, 72 bases1211109876543215′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 3.5 kb of the gene's 26 kb; 1,134 of those bases code for the protein.

How a genome test reads MLC1

93

positions in MLC1 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 26 kb of MLC1, introns included, not only the 3.5 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). MLC1 gene: modulator of VRAC current 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/mlc1

Vancouver

Dante Labs. MLC1 gene: modulator of VRAC current 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/mlc1

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