Centre for Arab Genomic Studies a Division of Sheikh Hamdan Award for Medical Sciences

Centre for Arab Genomic Studies A Division of Sheikh Hamdan Award for Medical Sciences

The Catalogue for Transmission Genetics in Arabs CTGA Database

Nude, A. Nidulans, Homolog of, 1

Alternative Names terminal regions. The protein is capable of forming NDE1 a tightly associating coiled-coil protein that Nude facilitates both parallel dimerization and anti- Hom-Tes-87 parallel tetramerization.

Record Category Epidemiology in the Arab World Gene locus Saudi Arabia Alkuraya et al., (2011) described two unrelated WHO-ICD Saudi families with lissencephaly and severe N.B.:Classification not applicable to gene loci. microcephaly. Alkuraya et al., (2011) identified homozygous frameshift (p.Pro229TrpfsX85) Incidence per 100,000 Live Births mutation in NDE1 in family 1 and homozygous N/A to gene loci (p.Leu245ProfsX70) mutation in family 2. These mutations were perfectly segregated in an OMIM Number autosomal recessive pattern and were not present in 609449 more than 200 control samples neither in 1000 genome project. Both mutations in NDE1 truncate Mode of Inheritance the C-terminal NDE1domains, which are believed to be essential for interactions with cytoplasmic Gene Map Locus dynein and thus for regulation of cytoskeletal 16p13.11 dynamics in mitosis and phosphorylation of the cell cycle. Description The NDE1 gene encodes a member of the nuclear References distribution E (NudE) family of proteins. The Alkuraya FS, Cai X, Emery C, Mochida GH, Al- protein presents at the centrosome and interacts Dosari MS, Felie JM, Hill RS, Barry BJ, Partlow with other centrosome components. This JN, Gascon GG, Kentab A, Jan M, Shaheen R, interaction is part of a multiprotein complex that Feng Y, Walsh CA.Human mutations regulates dynein function. The NDE1 protein plays in NDE1 cause extreme microcephaly with a vital role in microtubule organization, mitosis and lissencephaly. Am J Hum Genet. 2011; 88(5):536- neuronal migration. Mutations in this gene cause 47. PMID:21529751. Lissencephaly 4. Related CTGA Records Molecular Genetics Lissencephaly 4 The NDE1 gene is located on the short arm of chromosome 16, where it spans a length of about 83 External Links Kb. The gene consists of nine exons, of which the http://www.genecards.org/cgi- last exon is entirely contained within the MYH11 bin/carddisp.pl?gene=NDE1 gene. The NDE1 protein is made up of 346 amino acids. Multiple isoforms exist for the protein, with Contributors a highly conserved N-terminus and more varied C- Ameera Balobaid: 08.06.2016