MYO5A |
- 30
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- MYO5A (HGNC:7602) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- myosin VA
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- MYH12
- Alias symbols
- MYO5, GS1, MYR12
- %HI
- 15.8(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.94(Read more about gnomAD pLI score)
- LOEUF
- 0.3(Read more about gnomAD LOEUF score)
- Cytoband
- 15q21.2
- Genomic Coordinates
-
GRCh37/hg19: chr15:52599480-52821247 NCBI Ensembl UCSC GRCh38/hg38: chr15:52307283-52529050 NCBI Ensembl UCSC - MANE Select Transcript
- NM_001382347.1 ENST00000399233.7 (Read more about MANE Select)
- Function
- Processive actin-based motor that can move in large steps approximating the 36-nm pseudo-repeat of the actin filament. Involved in melanosome transport. Also mediates the transport of vesicles to the plasma membrane. May also be required for some polarization process involved in dendrite formation. {ECO:0000269|PubMed:10448864}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-30950
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
08/22/2016
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- Griscelli syndrome type 1 Monarch
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000015.9)
(NC_000015.10)