MYO16 Chromosome 13
Myosin XVI
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What This Gene Does
This gene encodes an unconventional myosin protein. The encoded protein has been proposed to act as a serine/threonine phosphatase-1 targeting or regulatory subunit. Studies in a rat cell line suggest that this protein may regulate cell cycle progression. A variant within this gene may be associated with susceptibility to schizophrenia and elevated expression of this gene has been observed in the frontal cortex of human schizophrenia patients. [provided by RefSeq, Mar 2017]
Gene Info
Gene Group
"Ankyrin repeat domain containing|Protein phosphatase 1 regulatory subunits|Myosin heavy chains, class XVI"
Locus Type
gene with protein product
Location
13q33.3
Ensembl
ENSG00000041515
Associated Conditions (2)
MYO16-related disorder
MYO16-associated developmental delay
Key Variants
RS116147541
Conflicting classifications of pathogenicity
Health Risk
RS144450367
Conflicting classifications of pathogenicity
Health Risk
RS146716803
Conflicting classifications of pathogenicity
MYO16-related disorder, MYO16-related disorder
Health Risk
RS200595201
Conflicting classifications of pathogenicity
MYO16-related disorder, MYO16-related disorder
Health Risk
RS570510297
Conflicting classifications of pathogenicity
Health Risk
RS61739459
Conflicting classifications of pathogenicity
Health Risk
RS774060871
Likely pathogenic
MYO16-associated developmental delay, MYO16-associated developmental delay
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS116147541 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS144450367 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS146716803 | Health Risk | Conflicting classifications of pathogenicity | MYO16-related disorder, MYO16-related disorder |
| RS200595201 | Health Risk | Conflicting classifications of pathogenicity | MYO16-related disorder, MYO16-related disorder |
| RS570510297 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS61739459 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS774060871 | Health Risk | Likely pathogenic | MYO16-associated developmental delay, MYO16-associated developmental delay |