MPLKIP

M-phase specific PLK1 interacting protein
Identifiers
Symbols MPLKIP ; ABHS; C7orf11; ORF20; TTD4
External IDs OMIM: 609188 MGI: 1913558 HomoloGene: 32633 GeneCards: MPLKIP Gene
Orthologs
Species Human Mouse
Entrez 136647 66308
Ensembl ENSG00000168303 ENSMUSG00000012429
UniProt Q8TAP9 Q9D011
RefSeq (mRNA) NM_138701 NM_025479
RefSeq (protein) NP_619646 NP_079755
Location (UCSC) Chr 7:
40.13 – 40.13 Mb
Chr 13:
17.7 – 17.7 Mb
PubMed search

M-phase-specific PLK1-interacting protein (TTD non-photosensitive 1 protein) is a protein that in humans is encoded by the MPLKIP gene (previously known as C7orf11).[1][2] Patients with an inherited defect in both alleles of the gene suffer from trichothiodystrophy (TTD), a disease hallmarked by brittle hair and nails and usually by developmental difficulties as well. One patient carries a homozygous deletion of the whole gene area, which indicates that the gene is not essential for embryonic development. TTD can be diagnosed by the presence of tigertail-striped patterns in hair visible under polarised light microscopy, or biochemically by a reduced Cys content of the hairs. Only a minority of the TTD cases carry a MPLKIP defect: more frequently, the gene ERCC2 is mutated, which encodes a subunit of the protein complex TFIIH that is required for general transcription and for nucleotide excision repair of DNA damage.

References

  1. ↑ Nakabayashi K, Fernandez BA, Teshima I, Shuman C, Proud VK, Curry CJ, Chitayat D, Grebe T, Ming J, Oshimura M, Meguro M, Mitsuya K, Deb-Rinker P, Herbrick JA, Weksberg R, Scherer SW (Feb 2002). "Molecular genetic studies of human chromosome 7 in Russell-Silver syndrome". Genomics 79 (2): 186–96. doi:10.1006/geno.2002.6695. PMID 11829489.
  2. ↑ "Entrez Gene: C7orf11 chromosome 7 open reading frame 11".

Further reading


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