CEP55

Chr 10AR

centrosomal protein 55

Also known as: C10orf3, CT111, MARCH, URCC6

NCBI Gene: 55165ENSG00000138180UniProt: Q53EZ4OMIM: 610000

Enables identical protein binding activity. Involved in cranial skeletal system development; establishment of protein localization; and midbody abscission. Acts upstream of or within mitotic cytokinesis. Located in Flemming body; centrosome; and cytosol. Implicated in multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly. [provided by Alliance of Genome Resources, Jun 2026]

GeneReviewsOMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephalyMIM #236500
AR
1
Active trials
—
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.08
LOEUF
DN
Mechanism· predicted
📖
GeneReview available — CEP55
Authoritative clinical overview · Recommended first read
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.08LOEUF
pLI 0.000
Z-score 1.22
OE 0.76 (0.54–1.08)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.50Z-score
OE missense 0.91 (0.81–1.02)
211 obs / 232.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.76 (0.54–1.08)
0≤0.351.4
Missense OE?0.91 (0.81–1.02)
0≤0.61.4
Synonymous OE?0.91
0≤1.21.6
LoF obs/exp: 22 / 29.1Missense obs/exp: 211 / 232.3Syn Z: 0.68

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CEP55 · protein map & ClinVar variants

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

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