| Entrez Gene ID | 2491 |
|---|---|
| Official Gene Symbol | CENPI (GeneCards) |
| Full name | centromere protein I |
| Location | Xq22.1 |
| Other ids | Vega : OTTHUMG00000022018 MIM : 300065 HGNC : HGNC:3968 Ensembl : ENSG00000102384 |
| Other names | LRPR1, CENP-I, FSHPRH1 |
| Summary | This gene encodes a centromere protein that is a component of the CENPA-NAC (nucleosome-associated) complex. This complex is critical for accurate chromosome alignment and segregation and it ensures proper mitotic progression. This protein regulates the recruitment of kinetochore-associated proteins that are required to generate the spindle checkpoint signal. The product of this gene is involved in the response of gonadal tissues to follicle-stimulating hormone. Mutations in this gene may be involved in human X-linked disorders of gonadal development and gametogenesis. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 13. [provided by RefSeq, Jan 2016] |
Found 1 variant in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 22322 | 2491 | CENPI | X | 100460443 | 100460443 | Cockayne syndrome | HiSeq X Ten |