MYO1C

Chr 17

myosin IC

Also known as: MMI-beta, MMIb, MyoIC, NMI, myr2

This gene encodes a member of the unconventional myosin protein family, which are actin-based molecular motors. The protein is found in the cytoplasm, and one isoform with a unique N-terminus is also found in the nucleus. The nuclear isoform associates with RNA polymerase I and II and functions in transcription initiation. The mouse ortholog of this protein also functions in intracellular vesicle transport to the plasma membrane. Multiple transcript variants encoding different isoforms have been found for this gene. The related gene myosin IE has been referred to as myosin IC in the literature, but it is a distinct locus on chromosome 19. [provided by RefSeq, Jul 2008]

OMIMResearchGenerating clinical summary…

Clinical highlights

Gene-disease validity (ClinGen)
nonsyndromic genetic hearing loss · ADDisputedevidence questions this relationship
0
Active trials
11
Pubs (1 yr)
P/LP submissions
P/LP missense
0.68
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.68LOEUF
pLI 0.000
Z-score 3.70
OE 0.51 (0.390.68)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
-0.64Z-score
OE missense 1.07 (1.001.14)
703 obs / 657.1 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.51 (0.390.68)
00.351.4
Missense OE?1.07 (1.001.14)
00.61.4
Synonymous OE?1.28
01.21.6
LoF obs/exp: 34 / 66.6Missense obs/exp: 703 / 657.1Syn Z: -3.63

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

MYO1C · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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