NUF2 Chromosome 1
NUF2 component of NDC80 kinetochore complex
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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
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1650773164 | Health Risk | Pathogenic | Short stature, Microcephaly, Short stature |