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Gene

MKS1

MKS transition zone complex subunit 1

Summary

Cytogenetic location
17q22
Coordinates
Chromosome 17: 58,205,441–58,219,255 (GRCh38)
Exons
18 exons across 13.8 kb
Protein
559 amino acids
Inheritance
Autosomal recessive
Also known as
FLJ20345, POC12, BBS13
Previous symbols
MKS
MANE Select transcript
ENST00000393119.7NM_017777.4
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

  • Bardet-Biedl and Alström Syndromes

    • Bardet-Biedl syndromeAutosomal recessive

      A recessive ciliopathy caused by variants in more than 20 genes (most often BBS1 and BBS10) that causes retinal dystrophy, obesity, extra fingers or toes, kidney anomalies and learning difficulties.

      • 2 GenCC submitters rate it definitive or strong
      What knowing changes

      Diagnosis allows eye, kidney and diabetes surveillance, and setmelanotide is an approved treatment for obesity in Bardet-Biedl syndrome.

  • Joubert Syndrome And Related Disorders

    • Autosomal recessive

      Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the "molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa.

      • 1 GenCC submitter rates it definitive or strong
    • Joubert Syndrome

      A ciliopathy defined by a malformation of the cerebellum and brainstem (the molar tooth sign), with low muscle tone, developmental delay and abnormal eye movements, sometimes with kidney, liver or eye involvement.

      • 1 GenCC submitter rates it definitive or strong

  • Meckel Syndrome

    • Autosomal recessive

      A rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation mainly occipital encephalocele, large polycystic kidneys, and polydactyly as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia.

      • 2 GenCC submitters rate it definitive or strong

Broader groupings

  • Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)

    • Autosomal Recessive Cerebellar AtaxiaAutosomal recessive

      One of 57 genes linked to it

      A group of recessively inherited ataxias caused by biallelic variants in genes such as RFC1, FXN, SACS, TTPA, SETX, APTX, PNKP, ANO10 and SYNE1.

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

      Ataxia with vitamin E deficiency (TTPA) is treatable with vitamin E supplements; other forms are managed with physiotherapy and symptom care, and relatives can be offered carrier testing.

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 MKS1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 17, with a bracket where MKS1 sits. MKS1 and 22 genes near it on chromosome 17, from 57,712,348 to 58,712,347.Chromosome 1717q22p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.357.8 Mb58 Mb58.2 Mb58.4 Mb58.6 MbCCDC182: 57,744,495–57,745,299, reverse strandCCDC182MRPS23: 57,834,781–57,850,076, reverse strandMRPS23CUEDC1: 57,861,231–57,955,851, reverse strandCUEDC1VEZF1: 57,971,547–57,988,389, reverse strandVEZF1: 57,989,038–58,007,246, reverse strandSRSF1: 57,996,889–58,007,346, reverse strandSRSF1DYNLL2: 58,082,825–58,095,542, forward strandDYNLL2OR4D1: 58,148,384–58,159,585, forward strandOR4D1OR4D2: 58,166,982–58,171,411, forward strandOR4D2EPX: 58,192,726–58,205,174, forward strandEPXMKS1: 58,205,441–58,219,255, reverse strandMKS1LPO: 58,218,548–58,268,518, forward strandLPOMPO: 58,269,855–58,280,935, reverse strandMPOTSPOAP1: 58,301,228–58,328,823, reverse strandTSPOAP1SUPT4H1: 58,345,175–58,353,099, reverse strandSUPT4H1: 58,345,206–58,417,595, reverse strandRNF43: 58,353,671–58,417,735, reverse strandRNF43HSF5: 58,420,167–58,488,408, reverse strandHSF5MTMR4: 58,489,529–58,517,905, reverse strandMTMR4SEPTIN4: 58,519,969–58,544,368, reverse strandSEPTIN4TEX14: 58,556,678–58,692,055, reverse strandTEX14IGBP1C: 58,660,424–58,692,055, reverse strandIGBP1CRAD51C: 58,692,569–58,735,611, forward strandRAD51CDiagram of MKS1: 18 exons on the reverse strand of chromosome 17Exon 18: 2 known disease-causing sitesExon 17: 4 known disease-causing sitesExon 16: 6 known disease-causing sitesExon 15: 8 known disease-causing sitesExon 14: 7 known disease-causing sitesExon 13: 5 known disease-causing sitesExon 12: 11 known disease-causing sitesExon 11: 4 known disease-causing sitesExon 10: 7 known disease-causing sitesExon 9: 3 known disease-causing sitesExon 8: 11 known disease-causing sitesExon 7: 5 known disease-causing sitesExon 6: 6 known disease-causing sitesExon 5: 9 known disease-causing sitesExon 4: 12 known disease-causing sitesExon 3: 7 known disease-causing sitesExon 2: 14 known disease-causing sitesExon 1: 7 known disease-causing sitesExon 18: 58,205,441–58,206,170, 730 basesExon 17: 58,206,283–58,206,380, 98 basesExon 16: 58,206,465–58,206,547, 83 basesExon 15: 58,207,085–58,207,218, 134 basesExon 14: 58,207,894–58,208,001, 108 basesExon 13: 58,208,105–58,208,174, 70 basesExon 12: 58,208,513–58,208,583, 71 basesExon 11: 58,210,659–58,210,724, 66 basesExon 10: 58,210,980–58,211,022, 43 basesExon 9: 58,212,378–58,212,434, 57 basesExon 8: 58,212,982–58,213,090, 109 basesExon 7: 58,213,765–58,213,869, 105 basesExon 6: 58,214,259–58,214,387, 129 basesExon 5: 58,214,741–58,214,838, 98 basesExon 4: 58,216,088–58,216,243, 156 basesExon 3: 58,216,666–58,216,736, 71 basesExon 2: 58,218,620–58,218,729, 110 basesExon 1: 58,219,151–58,219,255, 105 bases1816141210864215′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 2.3 kb of the gene's 13.8 kb; 1,680 of those bases code for the protein.

How a genome test reads MKS1

168

positions in MKS1 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 13.8 kb of MKS1, introns included, not only the 2.3 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.). MKS1 gene: MKS transition zone complex subunit 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/mks1

Vancouver

Dante Labs. MKS1 gene: MKS transition zone complex subunit 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/mks1

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