CENPP Chromosome 9

Centromere protein P
1 variant 1 Health Risk

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What This Gene Does
CENPP is a subunit of a CENPH (MIM 605607)-CENPI (MIM 300065)-associated centromeric complex that targets CENPA (MIM 117139) to centromeres and is required for proper kinetochore function and mitotic progression (Okada et al., 2006 [PubMed 16622420]).[supplied by OMIM, Mar 2008]
Gene Info
Gene Group
Constitutive centromere associated network
Locus Type
gene with protein product
Location
9q22.31
Ensembl
ENSG00000188312
Associated Conditions (2)
Low-frequency hearing loss
Low-frequency sensorineural hearing impairment
Key Variants
RS767442671
Likely pathogenic
Low-frequency hearing loss, Low-frequency sensorineural hearing impairment, Low-frequency hearing loss
Health Risk
All Variants (1)
RSID Category Clinical Significance Conditions
RS767442671 Health Risk Likely pathogenic Low-frequency hearing loss, Low-frequency sensorineural hearing impairment, Low-frequency hearing loss
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