MKS1 |
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)