Identity
HGNC
LOCATION
20p12.2
LOCUSID
ALIAS
BBS6,HMCS,KMS,MKS
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 8195
MIM: 604896
HGNC: 7108
Ensembl: ENSG00000125863
Variants:
dbSNP: 8195
ClinVar: 8195
TCGA: ENSG00000125863
COSMIC: MKKS
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000125863 | ENST00000347364 | Q9NPJ1 |
| ENSG00000125863 | ENST00000399054 | Q9NPJ1 |
| ENSG00000125863 | ENST00000651692 | Q9NPJ1 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 33741323 | 2021 | Apparent but unconfirmed digenism in an Iranian consanguineous family with syndromic Retinal Disease. | 1 |
| 33741323 | 2021 | Apparent but unconfirmed digenism in an Iranian consanguineous family with syndromic Retinal Disease. | 1 |
| 31989739 | 2020 | Novel mutation in MKKS/BBS6 linked with arRP and polydactyly in a family of North Indian origin. | 1 |
| 31989739 | 2020 | Novel mutation in MKKS/BBS6 linked with arRP and polydactyly in a family of North Indian origin. | 1 |
| 29232001 | 2018 | Novel sequence variants in the MKKS gene cause Bardet-Biedl syndrome with intra- and inter-familial variable phenotypes. | 4 |
| 29232001 | 2018 | Novel sequence variants in the MKKS gene cause Bardet-Biedl syndrome with intra- and inter-familial variable phenotypes. | 4 |
| 28624958 | 2017 | Whole-exome sequencing identified compound heterozygous variants in MMKS in a Chinese pedigree with Bardet-Biedl syndrome. | 8 |
| 28761321 | 2017 | Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families. | 13 |
| 28624958 | 2017 | Whole-exome sequencing identified compound heterozygous variants in MMKS in a Chinese pedigree with Bardet-Biedl syndrome. | 8 |
| 28761321 | 2017 | Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families. | 13 |
| 26900326 | 2016 | A novel H395R mutation in MKKS/BBS6 causes retinitis pigmentosa and polydactyly without other findings of Bardet-Biedl or McKusick-Kaufman syndrome. | 8 |
| 26900326 | 2016 | A novel H395R mutation in MKKS/BBS6 causes retinitis pigmentosa and polydactyly without other findings of Bardet-Biedl or McKusick-Kaufman syndrome. | 8 |
| 24400638 | 2015 | Mutation spectrum in BBS genes guided by homozygosity mapping in an Indian cohort. | 17 |
| 24400638 | 2015 | Mutation spectrum in BBS genes guided by homozygosity mapping in an Indian cohort. | 17 |
| 23432027 | 2014 | Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis. | 16 |
Citation
Dessen P
MKKS (MKKS centrosomal shuttling protein)
Atlas Genet Cytogenet Oncol Haematol. 2014-08-01
Online version: http://atlasgeneticsoncology.org/gene/54462/new-content/gene-explorer/
