MPLKIP

MPLKIP
Identifiers
Aliases MPLKIP, ABHS, C7orf11, ORF20, TTD4, M-phase specific PLK1 interacting protein
External IDs MGI: 1913558 HomoloGene: 32633 GeneCards: MPLKIP
Orthologs
Species Human Mouse
Entrez

136647

66308

Ensembl

ENSG00000168303

ENSMUSG00000012429

UniProt

Q8TAP9

Q9D011

RefSeq (mRNA)

NM_138701

NM_025479

RefSeq (protein)

NP_619646.1

NP_079755.1

Location (UCSC) Chr 7: 40.13 – 40.13 Mb Chr 13: 17.7 – 17.7 Mb
PubMed search [1] [2]
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).[3][4] 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. "Human PubMed Reference:".
  2. "Mouse PubMed Reference:".
  3. 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.
  4. "Entrez Gene: C7orf11 chromosome 7 open reading frame 11".

Further reading


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