Emerin

Emerin
Emerin

—
Masse/Länge Primärstruktur 254 Aminosäuren
Bezeichner
Gen-Name EMD
Externe IDs OMIM: 300384 UniProt: P50402
Vorkommen
Übergeordnetes Taxon Säugetiere[1]

Emerin ist ein Säugetier-Protein. Es ist in der inneren Membran des Zellkerns verankert. Ermöglicht wird dies durch eine Transmembran-Domäne. Emerin stellt eine Verbindung zwischen der Lamina und der Kernhülle her.

Wenn das Emerin nicht funktional ist, leidet die mechanische Stabilität des Zellkerns darunter. Vor allem in mechanisch stark beanspruchtem Gewebe, wie z. B. Muskelgewebe, führt dies zu Beschädigungen des Zellkerns und z. B. Emery-Dreifuss-Muskeldystrophie. Diese X-chromosomal vererbte degenerative Myopathie hat ihre Ursache im mutierten menschlichen Emerin-Gen.

Einzelnachweise

  1. ↑ Homologe bei OMA

Wikimedia Foundation.

Игры ⚽ Поможем решить контрольную работу

Schlagen Sie auch in anderen Wörterbüchern nach:

  • Emerin — Emerin, together with MAN1, is a LEM domain containing integral membrane protein of the nuclear membrane in vertebrates. The function of MAN1 is not extensively known, but emerin is known to interact with nuclear lamins, barrier to… …   Wikipedia

  • emerin — em·er·in (emґər in) an integral membrane protein of the nuclear inner membrane; it binds to lamins A and C. Mutations in the emerin gene causing absence of emerin from cardiac and skeletal muscle have been shown to cause X linked Emery… …   Medical dictionary

  • emerin — noun A protein found in the nuclear membrane of vertebrate cells …   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

  • Emery-Dreifuss-Muskeldystrophie — Klassifikation nach ICD 10 G71.0 Muskeldystrophie …   Deutsch Wikipedia

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

  • Barrier to autointegration factor 1 — Barrier to autointegration factor 1, also known as BANF1, is a human gene.cite web | title = Entrez Gene: BANF1 barrier to autointegration factor 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene Cmd=ShowDetailView TermToSearch=8815|… …   Wikipedia

  • Nuclear lamina — The nuclear lamina is a dense ( 30 to 100 nm thick) fibrillar network inside the nucleus of a eukaryotic cell. It is composed of intermediate filaments and membrane associated proteins. Besides providing mechanical support, the nuclear lamina… …   Wikipedia

  • Emery-Dreifuss muscular dystrophy — Infobox Disease Name = PAGENAME Caption = DiseasesDB = 31705 DiseasesDB mult = DiseasesDB2|33543 DiseasesDB2|31704 | ICD10 = ICD10|G|71|0|g|70 ICD9 = ICD9|359.0 ICD9|359.1 ICDO = OMIM = 181350 OMIM mult = OMIM2|604929 OMIM2|310300 | MedlinePlus …   Wikipedia

  • Nuclear envelope — Human cell nucleus A nuclear envelope (NE) (also known as the perinuclear envelope, nuclear membrane, nucleolemma or karyotheca) is a double lipid bilayer that encloses the genetic material in eukaryotic cells. The nuclear envelope also serves as …   Wikipedia

Share the article and excerpts

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