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CENPT

From Wikipedia, the free encyclopedia
CENPT
Identifiers
AliasesCENPT, C16orf56, CENP-T, centromere protein T, SSMGA
External IDsOMIM: 611510; MGI: 2443939; HomoloGene: 41610; GeneCards: CENPT; OMA:CENPT - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_025082

NM_177150

RefSeq (protein)

NP_079358

NP_796124

Location (UCSC)Chr 16: 67.83 – 67.85 MbChr 8: 106.57 – 106.58 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Centromere protein T is a protein that in humans is encoded by the CENPT gene.[5][6][7]

Clinical significance

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Mutations in CENPT cause an autosomal recessive syndrome of microcephaly, short stature, skeletal abnormalities, underdeveloped genitalia and pubertal delay.[8]

See also

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References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000102901Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000036672Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Okada M, Cheeseman IM, Hori T, Okawa K, McLeod IX, Yates JR 3rd, Desai A, Fukagawa T (May 2006). "The CENP-H-I complex is required for the efficient incorporation of newly synthesized CENP-A into centromeres". Nat Cell Biol. 8 (5): 446–57. doi:10.1038/ncb1396. PMID 16622420. S2CID 26974412.
  6. ^ Foltz DR, Jansen LE, Black BE, Bailey AO, Yates JR 3rd, Cleveland DW (May 2006). "The human CENP-A centromeric nucleosome-associated complex". Nat Cell Biol. 8 (5): 458–69. doi:10.1038/ncb1397. PMID 16622419. S2CID 205286556.
  7. ^ "Entrez Gene: CENPT centromere protein T".
  8. ^ "OMIM Entry - # 618702 - SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA". www.omim.org. Retrieved 2020-01-25.
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Further reading

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