Notch 3

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Notch 3
Identifiers
Symbols NOTCH3 ; CADASIL; CASIL
External IDs OMIM600276 MGI99460 HomoloGene376 GeneCards: NOTCH3 Gene
RNA expression pattern
PBB GE NOTCH3 203238 s at tn.png
PBB GE NOTCH3 203237 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 4854 18131
Ensembl ENSG00000074181 ENSMUSG00000038146
UniProt Q9UM47 Q61982
RefSeq (mRNA) NM_000435 NM_008716
RefSeq (protein) NP_000426 NP_032742
Location (UCSC) Chr 19:
15.27 – 15.31 Mb
Chr 17:
32.12 – 32.17 Mb
PubMed search [1] [2]

Neurogenic locus notch homolog protein 3 is a protein that in humans is encoded by the NOTCH3 gene.[1][2]

This gene encodes the third discovered human homologue of the Drosophilia melanogaster type I membrane protein notch. In Drosophilia, notch interaction with its cell-bound ligands (delta, serrate) establishes an intercellular signalling pathway that plays a key role in neural development. Homologues of the notch-ligands have also been identified in human, but precise interactions between these ligands and the human notch homologues remains to be determined.

Pathology

Micrograph showing CADASIL with a Notch 3 immunostain.

Mutations in NOTCH3 have been identified as the underlying cause of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).[2] Mutations in NOTCH3 have also been identified in a Turkish family with Alzheimer's disease.[3]

References[edit]

  1. ^ Sugaya K, Fukagawa T, Matsumoto K, Mita K, Takahashi E, Ando A, Inoko H, Ikemura T (Feb 1995). "Three genes in the human MHC class III region near the junction with the class II: gene for receptor of advanced glycosylation end products, PBX2 homeobox gene and a notch homolog, human counterpart of mouse mammary tumor gene int-3". Genomics 23 (2): 408–19. doi:10.1006/geno.1994.1517. PMID 7835890. 
  2. ^ a b "Entrez Gene: NOTCH3 Notch homolog 3 (Drosophila)". 
  3. ^ Guerreiro RJ, Lohmann E, Kinsella E, "et al." (2012). "Exome sequencing reveals an unexpected genetic cause of disease: NOTCH3 mutation in a Turkish family with Alzheimer's disease". Neurobiol Aging 33 (5): e17–23. doi:10.1016/j.neurobiolaging.2011.10.009. PMID 22153900. 

Further reading[edit]

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