progerin


progerin
pro·ger·in (pro-jērґin) an abnormal, truncated protein formed during processing of the precursor to lamin A in progeria (q.v.) as a result of mutation of the gene encoding lamins A and C such that a cryptic splice site is activated.

Medical dictionary. 2011.

Look at other dictionaries:

  • Progerin — is a truncated version of lamin A protein involved in Hutchinson Gilford progeria syndrome. Progerin is most often generated by a mutation (C1824T) in the lamin A gene, LMNA. This mutation activates a cryptic splice site and gives rise to a form… …   Wikipedia

  • progerin — noun A truncated version of the protein lamin A, involved in progeria …   Wiktionary

  • Laminopathy — Normal nuclear lamina (a and b) and mutant nuclear lamina (c and d) from a patient with HGPS, visualized by immunofluorescence note the irregular and bumpy shape of the laminopathic nuclei[1] Laminopathies are a group of rare genetic disorders… …   Wikipedia

  • LMNA — Lamin A/C PDB rendering based on 1ifr …   Wikipedia

  • Progeria — Infobox Disease Name = Progeria Caption = DiseasesDB = 10704 ICD10 = ICD10|E|34|8|e|20 ICD9 = ICD9|259.8 ICDO = OMIM = 176670 MedlinePlus = eMedicineSubj = derm eMedicineTopic = 731 MeshID = D011371 Progeria is a condition of early aging [Stedman …   Wikipedia

  • Restrictive dermopathy — is a rare, lethal autosomal recessive inherited progeroid disorder.MechanismRestrictive dermopathy (RD) is caused by the loss of the gene ZMPSTE24, which encodes a protein responsible for the cleavage of farnesylated prelamin A (progerin) into… …   Wikipedia

  • PCGF6 — Polycomb group ring finger 6 PDB rendering based on 2djb …   Wikipedia

  • Progeria — A disorder characterized by premature aging. There is more than one type of progeria, and the mechanism behind these disorders is not yet known. Researchers have recently found dramatically lowered levels of antioxidant enzymes, particularly… …   Medical dictionary


Share the article and excerpts

Direct link
Do a right-click on the link above
and select “Copy Link”

We are using cookies for the best presentation of our site. Continuing to use this site, you agree with this.