CEP295 Chromosome 11

Centrosomal protein 295
4 variants 4 Health Risk

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What This Gene Does
Enables microtubule binding activity. Involved in several processes, including centriole replication; positive regulation of protein acetylation; and regulation of centrosome duplication. Located in cytoplasm and microtubule cytoskeleton. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
Small nucleolar RNA protein coding host genes
Locus Type
gene with protein product
Location
11q21
Ensembl
ENSG00000166004
Associated Conditions (1)
Seckel syndrome 11
Key Variants
RS1464608105
Pathogenic
Seckel syndrome 11, Seckel syndrome 11
Health Risk
RS1467671170
Pathogenic
Seckel syndrome 11, Seckel syndrome 11
Health Risk
RS1951805892
Pathogenic
Seckel syndrome 11, Seckel syndrome 11
Health Risk
RS774715645
Pathogenic
Seckel syndrome 11, Seckel syndrome 11
Health Risk
All Variants (4)
RSID Category Clinical Significance Conditions
RS1464608105 Health Risk Pathogenic Seckel syndrome 11, Seckel syndrome 11
RS1467671170 Health Risk Pathogenic Seckel syndrome 11, Seckel syndrome 11
RS1951805892 Health Risk Pathogenic Seckel syndrome 11, Seckel syndrome 11
RS774715645 Health Risk Pathogenic Seckel syndrome 11, Seckel syndrome 11
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