Rahul Sharma (Editor)

MPLKIP

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Species
  
Entrez
  
136647

Human
  
Ensembl
  
ENSG00000168303

Aliases
  
MPLKIP, ABHS, C7orf11, ORF20, TTD4, M-phase specific PLK1 interacting protein

External IDs
  
MGI: 1913558 HomoloGene: 32633 GeneCards: 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). 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

MPLKIP Wikipedia


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