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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