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MPLKIP

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MPLKIP
Identifiers
AliasesMPLKIP, ABHS, C7orf11, ORF20, TTD4, M-phase specific PLK1 interacting protein
External IDsOMIM: 609188; MGI: 1913558; HomoloGene: 32633; GeneCards: MPLKIP; OMA:MPLKIP - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_138701

NM_025479

RefSeq (protein)

NP_619646

NP_079755

Location (UCSC)Chr 7: 40.13 – 40.13 MbChr 13: 17.87 – 17.87 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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).[5][6] 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.

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References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000168303Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000012429Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ 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.
  6. ^ "Entrez Gene: C7orf11 chromosome 7 open reading frame 11".

Further reading

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