MKKS
  • 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
MKKS (HGNC:7108) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
MKKS centrosomal shuttling protein
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
BBS6
Alias symbols
No aliases found
%HI
38.61(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.11(Read more about gnomAD LOEUF score)
Cytoband
20p12.2
Genomic Coordinates
GRCh37/hg19: chr20:10381657-10414870 NCBI Ensembl UCSC
GRCh38/hg38: chr20:10401009-10434222 NCBI Ensembl UCSC
MANE Select Transcript
NM_170784.3 ENST00000347364.7 (Read more about MANE Select)
Function
Probable molecular chaperone that assists the folding of proteins upon ATP hydrolysis (PubMed:20080638). Plays a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia (PubMed:20080638). May play a role in protein processing in limb, cardiac and reproductive system development. May play a role in cytokinesis (PubMed:28753627). {ECO:0000269|PubMed:20080638, ECO:0000269|PubMed:28753627}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-11398
ClinGen Curation ID:
CCID:007465
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
Not Yet Evaluated
Read full report...
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
HI Evidence Comments:
Variants in MKKS have been identified in McKusick-Kaufman syndrome (MKS) and Bardet-Biedl syndrome 6 (BBS). These entities have significant phenotypic overlap but have some distinct characteristics. GeneReviews "considers whether MKS should continue to remain a separate entity or henceforth be considered as belonging to the wider phenotypic spectrum that includes BBS. However, as retinal disease, obesity, and developmental disabilities have classically been absent in MKS, there is support for a distinct clinical entity. In addition, cardiovascular and genital anomalies may be more frequently associated with variants in MKKS compared to other BBS genes" (PMID:20301675). For the purpose of this curation, the disease term Bardet-Biedl syndrome was selected.

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000020.10) (NC_000020.11)