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NEDHILD

Chr 13AD

chromosome alignment maintaining phosphoprotein 1

Also known as: C13orf8, CAMP, CHAMP, MRD40, NEDHILD, ZNF828

NCBI Gene: 283489 OMIM: 616579

This gene encodes a zinc finger protein that regulates chromosome segregation during mitosis by ensuring correct chromosome alignment on the metaphase plate and maintaining proper sister kinetochore attachment to opposing spindle poles. Mutations cause an autosomal dominant neurodevelopmental disorder characterized by hypotonia, impaired language development, and dysmorphic features. The condition follows autosomal dominant inheritance with neurodevelopmental impacts apparent early in life.

OMIM ResearchSummary from RefSeq, OMIM

This gene encodes a zinc finger protein that functions as a regulator of chromosome segregation in mitosis. The encoded protein is required for correct alignment of chromosomes on the metaphase plate, and plays a role in maintaining the attachment of sister kinetochores to microtubules from opposite spindle poles. Mutations in this gene are associated with an autosomal dominant form of intellectual disability. [provided by RefSeq, Jul 2017]

OMIM ResearchGenerating clinical summary…

AD1 OMIM phenotype

Clinical Summary— NEDHILD

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Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for /lookup/symbol/homo_sapiens/NEDHILD?content-type=application/json&expand=1

gnomad: Error: Gene not found