NUF2 Chromosome 1

NUF2 component of NDC80 kinetochore complex
1 variant 1 Health Risk

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What This Gene Does
This gene encodes a protein that is highly similar to yeast Nuf2, a component of a conserved protein complex associated with the centromere. Yeast Nuf2 disappears from the centromere during meiotic prophase when centromeres lose their connection to the spindle pole body, and plays a regulatory role in chromosome segregation. The encoded protein is found to be associated with centromeres of mitotic HeLa cells, which suggests that this protein is a functional homolog of yeast Nuf2. Alternatively spliced transcript variants that encode the same protein have been described. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
NDC80 kinetochore complex
Locus Type
gene with protein product
Location
1q23.3
Ensembl
ENSG00000143228
Associated Conditions (2)
Short stature
Microcephaly
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS1650773164 Health Risk Pathogenic Short stature, Microcephaly, Short stature
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