Gene Facts External Data Attribution

HGNC Symbol
MKS1 (HGNC:7121) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
MKS transition zone complex subunit 1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
MKS
Alias symbols
FLJ20345, POC12, BBS13
%HI
34.89(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.04(Read more about gnomAD LOEUF score)
Cytoband
17q22
Genomic Coordinates
GRCh37/hg19: chr17:56282797-56296966 NCBI Ensembl UCSC
GRCh38/hg38: chr17:58205441-58219255 NCBI Ensembl UCSC
MANE Select Transcript
NM_017777.4 ENST00000393119.7 (Read more about MANE Select)
Function
Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Involved in centrosome migration to the apical cell surface during early ciliogenesis. Required for ciliary structure and function, including a role in regulating length and appropriate number through modulating centrosome duplication. Required for cell branching morphology. {ECO:00002... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-1625
Curation Status:
Reopened
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Reopened
Triplosensitivity:
Reopened
Last Evaluated:
Reopened

Haploinsufficiency (HI) Score Details

Review not yet complete.

Triplosensitivity (TS) Score Details

Review not yet complete.

Genomic View

Select assembly: (NC_000017.10) (NC_000017.11)