MYLIP

Chr 6

myosin regulatory light chain interacting protein

Also known as: IDOL, MIR

NCBI Gene: 29116ENSG00000007944UniProt: Q8WY64

The ERM protein family members ezrin, radixin, and moesin are cytoskeletal effector proteins linking actin to membrane-bound proteins at the cell surface. Myosin regulatory light chain interacting protein (MYLIP) is a novel ERM-like protein that interacts with myosin regulatory light chain and inhibits neurite outgrowth. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
13
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.54
LOEUF
GOF
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.54LOEUF
pLI 0.184
Z-score 3.06
OE 0.25 (0.13–0.54)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
1.08Z-score
OE missense 0.81 (0.72–0.91)
205 obs / 253.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.25 (0.13–0.54)
0≤0.351.4
Missense OE?0.81 (0.72–0.91)
0≤0.61.4
Synonymous OE?1.00
0≤1.21.6
LoF obs/exp: 5 / 19.6Missense obs/exp: 205 / 253.4Syn Z: 0.03

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

MYLIP · 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

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients