MARCKS

Chr 6

myristoylated alanine rich protein kinase C substrate

Also known as: 80K-L, MACS, PKCSL, PRKCSL

The protein encoded by this gene is a substrate for protein kinase C. It is localized to the plasma membrane and is an actin filament crosslinking protein. Phosphorylation by protein kinase C or binding to calcium-calmodulin inhibits its association with actin and with the plasma membrane, leading to its presence in the cytoplasm. The protein is thought to be involved in cell motility, phagocytosis, membrane trafficking and mitogenesis. [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
58
Pubs (1 yr)
P/LP submissions
P/LP missense
1.10
LOEUF
Mechanism
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.10LOEUF
pLI 0.326
Z-score 1.47
OE 0.23 (0.081.10)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.29Z-score
OE missense 0.92 (0.791.09)
104 obs / 112.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.23 (0.081.10)
00.351.4
Missense OE?0.92 (0.791.09)
00.61.4
Synonymous OE?0.87
01.21.6
LoF obs/exp: 1 / 4.3Missense obs/exp: 104 / 112.7Syn Z: 0.80

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

MARCKS · 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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