MPLKIP

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.

MPLKIP
Identifiers
AliasesMPLKIP, ABHS, C7orf11, ORF20, TTD4, M-phase specific PLK1 interacting protein
External IDsOMIM: 609188 MGI: 1913558 HomoloGene: 32633 GeneCards: MPLKIP
Orthologs
SpeciesHumanMouse
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 MbChr 13: 17.87 – 17.87 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse


References

  1. GRCh38: Ensembl release 89: ENSG00000168303 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000012429 - Ensembl, 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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