C7orf11
Encyclopedia
TTD non-photosensitive 1 protein is a protein
that in humans is encoded by the C7orf11 gene
.. 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 cystein content of the hairs. Only a minority of the TTD cases carry a TTDN1 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.
Protein
Proteins are biochemical compounds consisting of one or more polypeptides typically folded into a globular or fibrous form, facilitating a biological function. A polypeptide is a single linear polymer chain of amino acids bonded together by peptide bonds between the carboxyl and amino groups of...
that in humans is encoded by the C7orf11 gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
.. 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 cystein content of the hairs. Only a minority of the TTD cases carry a TTDN1 defect: more frequently, the gene ERCC2
ERCC2
ERCC2, or XPD is a protein involved in transcription-coupled nucleotide excision repair.The XPD gene encodes for a 2.3-kb mRNA containing 22 exons and 21 introns. The XPD protein is a 760 amino acids polypeptide with a size of 87kDa...
is mutated, which encodes a subunit of the protein complex TFIIH that is required for general transcription and for nucleotide excision repair
Nucleotide excision repair
Nucleotide excision repair is a DNA repair mechanism. DNA constantly requires repair due to damage that can occur to bases from a vast variety of sources including chemicals, radiation and other mutagens...
of DNA damage.