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Gene

MCOLN1

mucolipin TRP cation channel 1

Summary

Cytogenetic location
19p13.2
Coordinates
Chromosome 19: 7,522,624–7,534,009 (GRCh38)
Exons
14 exons across 11.4 kb
Protein
580 amino acids
Inheritance
Autosomal recessive
Also known as
TRPML1, ML4, MLIV, MST080, MSTP080, TRPM-L1
MANE Select transcript
ENST00000264079.11NM_020533.3
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Curated reports relevant to this gene

  • Hereditary Corneal Dystrophies

    • Corneal Dystrophy

      A group of inherited conditions affecting one or more layers of the cornea, including Fuchs endothelial dystrophy (often linked to a TCF4 repeat expansion), TGFBI-related granular and lattice dystrophies, and rarer types caused by genes such as SLC4A11, COL8A2, ZEB1 and CHST6.

      • 1 GenCC submitter rates it definitive or strong
      What knowing changes

      Carriers of TGFBI variants are generally advised to avoid laser refractive surgery (LASIK or PRK), which can make deposits worse; corneal transplant can restore vision in advanced disease.

  • Mucolipidoses (ML II, ML III and ML IV)

    • Mucolipidosis type IVAutosomal recessive

      Developmental delay, progressive vision loss from corneal clouding and retinal degeneration, and low stomach acid, caused by MCOLN1 variants; more common in people of Ashkenazi Jewish ancestry.

      • ClinGen rates the link definitive
      • 8 GenCC submitters rate it definitive or strong

Broader groupings

  • Lysosomal Storage Disease

    • Lysosomal storage disease (other and unspecified types)

      One of 59 genes linked to it

      Covers lysosomal storage diseases without a dedicated report, such as Farber disease and other ASAH1-related disorders, prosaposin (PSAP) deficiencies, multiple sulfatase deficiency, mucopolysaccharidosis types IX and X, and Dorfman-Chanarin disease; inheritance varies by subtype, most often autosomal recessive.

      • ClinGen rates the link definitive
      • 8 GenCC submitters rate it definitive or strong

Inheritance

Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How MCOLN1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 19, with a bracket where MCOLN1 sits. MCOLN1 and 37 genes near it on chromosome 19, from 7,028,317 to 8,028,316.Chromosome 1919p13.2p13.3p13.2p13.13p13.12p13.11p12p11q11q12q13.11q13.12q13.13q13.2q13.31q13.32q13.33q13.41q13.42q13.437.2 Mb7.4 Mb7.6 Mb7.8 Mb8 MbMBD3L5: 7,030,578–7,033,011, forward strandMBD3L4: 7,037,749–7,040,179, reverse strandMBD3L4MBD3L2: 7,049,321–7,051,735, forward strandMBD3L2MBD3L3: 7,056,207–7,069,665, reverse strandMBD3L3ZNF557: 7,069,416–7,096,206, forward strandZNF557INSR: 7,112,255–7,294,443, reverse strandINSRARHGEF18: 7,348,931–7,472,485, forward strandARHGEF18PEX11G: 7,476,869–7,497,449, reverse strandSAXO5: 7,492,976–7,509,030, forward strand: 7,507,052–7,519,622, forward strandZNF358: 7,515,292–7,521,027, forward strandZNF358MCOLN1: 7,522,624–7,534,009, forward strandMCOLN1: 7,533,595–7,540,059, forward strandPNPLA6: 7,534,004–7,561,764, forward strandPNPLA6CAMSAP3: 7,595,826–7,618,352, forward strandCAMSAP3XAB2: 7,619,523–7,629,573, reverse strandXAB2PET100: 7,629,711–7,631,956, forward strandPET100: 7,629,796–7,647,477, forward strandPCP2: 7,631,611–7,635,831, reverse strandPCP2STXBP2: 7,636,772–7,647,875, forward strandRETN: 7,669,044–7,670,456, forward strandMCEMP1: 7,677,056–7,679,834, forward strand: 7,678,501–7,682,854, forward strandTRAPPC5: 7,680,823–7,687,703, forward strandFCER2: 7,688,758–7,702,146, reverse strandFCER2CLEC4G: 7,728,943–7,733,906, reverse strandCLEC4G: 7,728,958–7,745,662, reverse strandCD209: 7,739,993–7,747,623, reverse strandCD209CLEC4M: 7,763,031–7,769,606, forward strandCLEC4MEVI5L: 7,830,182–7,864,980, forward strandEVI5LPRR36: 7,868,719–7,874,674, reverse strandPRR36LRRC8E: 7,888,500–7,902,021, forward strandLRRC8EMAP2K7: 7,903,823–7,914,480, forward strandMAP2K7TGFBR3L: 7,914,760–7,919,097, forward strandTGFBR3LSNAPC2: 7,920,314–7,923,250, forward strandCTXN1: 7,924,491–7,926,174, reverse strandTIMM44: 7,926,715–7,943,773, reverse strandELAVL1: 7,958,573–8,006,062, reverse strandELAVL1Diagram of MCOLN1: 14 exons on the forward strand of chromosome 19Exon 1: 1 known disease-causing siteExon 2: 17 known disease-causing sitesExon 3: 6 known disease-causing sitesExon 4: 13 known disease-causing sitesExon 5: 10 known disease-causing sitesExon 6: 5 known disease-causing sitesExon 7: 10 known disease-causing sitesExon 8: 12 known disease-causing sitesExon 9: 8 known disease-causing sitesExon 10: 10 known disease-causing sitesExon 11: 5 known disease-causing sitesExon 12: 7 known disease-causing sitesExon 13: 4 known disease-causing sitesExon 1: 7,522,624–7,522,781, 158 basesExon 2: 7,524,961–7,525,166, 206 basesExon 3: 7,526,439–7,526,606, 168 basesExon 4: 7,526,761–7,526,926, 166 basesExon 5: 7,527,520–7,527,628, 109 basesExon 6: 7,527,864–7,527,960, 97 basesExon 7: 7,528,158–7,528,257, 100 basesExon 8: 7,528,597–7,528,703, 107 basesExon 9: 7,528,821–7,528,970, 150 basesExon 10: 7,529,101–7,529,202, 102 basesExon 11: 7,529,590–7,529,712, 123 basesExon 12: 7,530,286–7,530,501, 216 basesExon 13: 7,533,523–7,533,653, 131 basesExon 14: 7,533,759–7,534,009, 251 bases12345678910111213145′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 2.1 kb of the gene's 11.4 kb; 1,743 of those bases code for the protein.

How a genome test reads MCOLN1

132

positions in MCOLN1 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 11.4 kb of MCOLN1, introns included, not only the 2.1 kb of exons.

Genes linked to the same conditions

Traits linked to MCOLN1

The Human Phenotype Ontology lists these as features of the rare conditions MCOLN1 can cause. Each trait's page lists the other genes linked to it.

External links

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.). MCOLN1 gene: mucolipin TRP cation channel 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/mcoln1

Vancouver

Dante Labs. MCOLN1 gene: mucolipin TRP cation channel 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/mcoln1

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