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Gene

MKKS

MKKS centrosomal shuttling protein

Summary

Cytogenetic location
20p12.2
Coordinates
Chromosome 20: 10,401,009–10,434,222 (GRCh38)
Exons
6 exons across 33.2 kb
Protein
570 amino acids
Inheritance
Autosomal recessive
Previous symbols
BBS6
MANE Select transcript
ENST00000347364.7NM_170784.3
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 report 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.

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 MKKS is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 20, with a bracket where MKKS sits. MKKS and 6 genes near it on chromosome 20, from 9,917,616 to 10,917,615.Chromosome 2020p12.2p13p12.3p12.2p12.1p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q12q13.11q13.12q13.13q13.2q13.31q13.32q13.3310 Mb10.2 Mb10.4 Mb10.6 Mb10.8 MbANKEF1: 9,986,126–10,059,414, forward strandANKEF1SNAP25: 10,172,395–10,308,258, forward strandSNAP25MKKS: 10,401,009–10,434,222, reverse strandMKKS: 10,411,653–10,434,236, reverse strand: 10,411,653–10,434,236, reverse strandSLX4IP: 10,434,668–10,638,912, forward strandSLX4IPJAG1: 10,637,684–10,674,396, reverse strandJAG1Diagram of MKKS: 6 exons on the reverse strand of chromosome 20Exon 6: 16 known disease-causing sitesExon 5: 10 known disease-causing sitesExon 4: 7 known disease-causing sitesExon 3: 73 known disease-causing sitesExon 6: 10,401,009–10,405,687, 4,679 basesExon 5: 10,407,616–10,407,726, 111 basesExon 4: 10,408,628–10,408,803, 176 basesExon 3: 10,412,530–10,413,931, 1,402 basesExon 2: 10,420,528–10,420,758, 231 basesExon 1: 10,434,108–10,434,222, 115 bases6543215′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 6.7 kb of the gene's 33.2 kb; 1,713 of those bases code for the protein.

How a genome test reads MKKS

111

positions in MKKS 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 33.2 kb of MKKS, introns included, not only the 6.7 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.). MKKS gene: MKKS centrosomal shuttling protein. Retrieved 16 October 2026, from https://dantelabs.com/genes/mkks

Vancouver

Dante Labs. MKKS gene: MKKS centrosomal shuttling protein [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/mkks

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