MYO6 |
Gene Facts External Data Attribution
- HGNC Symbol
- MYO6 (HGNC:7605) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- myosin VI
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- DFNA22, DFNB37
- Alias symbols
- KIAA0389
- %HI
- 7.36(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.42(Read more about gnomAD LOEUF score)
- Cytoband
- 6q14.1
- Genomic Coordinates
-
GRCh37/hg19: chr6:76458956-76629254 NCBI Ensembl UCSC GRCh38/hg38: chr6:75749239-75919537 NCBI Ensembl UCSC - MANE Select Transcript
- NM_004999.4 ENST00000369977.8 (Read more about MANE Select)
- Function
- Myosins are actin-based motor molecules with ATPase activity (By similarity). Unconventional myosins serve in intracellular movements (By similarity). Myosin 6 is a reverse-direction motor protein that moves towards the minus-end of actin filaments (PubMed:10519557). Has slow rate of actin-activated ADP release due to weak ATP binding (By similarity). Functions in a variety of intracellular processes such as vesicular membrane trafficking and cell migration (By similarity). Required for the stru... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-34542
Curation Status:
Under Primary Review
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Under Primary Review
Triplosensitivity:
Under Primary Review
Last Evaluated:
Under Primary Review
Haploinsufficiency (HI) Score Details
Review not yet complete.
Triplosensitivity (TS) Score Details
Review not yet complete.
Genomic View
Select assembly:
(NC_000006.11)
(NC_000006.12)