XPC (gene)
Encyclopedia
Xeroderma pigmentosum, complementation group C, also known as XPC, is a protein
which in humans is encoded by the XPC gene
. XPC is involved in the recognition of bulky DNA adducts in nucleotide excision repair
.
(NER) pathway. There are multiple components involved in the NER pathway, including Xeroderma pigmentosum
(XP) A-G and V, Cockayne syndrome
(CS) A and B, and trichothiodystrophy
(TTD) group A, etc. This component, XPC, plays an important role in the early steps of global genome NER, especially in damage recognition, open complex formation, and repair protein complex formation.
, a rare autosomal recessive disorder characterized by increased sensitivity to sunlight with the development of carcinomas at an early age.
with ABCA1
, CETN2
and XPB
.
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...
which in humans is encoded by the XPC 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...
. XPC is involved in the recognition of bulky DNA adducts in 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...
.
Function
This gene encodes a component of the nucleotide excision repairNucleotide 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...
(NER) pathway. There are multiple components involved in the NER pathway, including Xeroderma pigmentosum
Xeroderma pigmentosum
Xeroderma pigmentosum, or XP, is an autosomal recessive genetic disorder of DNA repair in which the ability to repair damage caused by ultraviolet light is deficient. In extreme cases, all exposure to sunlight must be forbidden, no matter how small. Multiple basal cell carcinomas and other skin...
(XP) A-G and V, Cockayne syndrome
Cockayne syndrome
Cockayne syndrome is a rare autosomal recessive, congenital disorder characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight , and premature aging...
(CS) A and B, and trichothiodystrophy
IBIDS syndrome
IBIDS syndrome, also known as trichothiodystrophy , photosynthetic trichthiodystrophy , trichothiodystrophy with congenital ichthyosis, Tay syndrome or sulfur-deficient brittle hair syndrome, was first described by Tay in 1971...
(TTD) group A, etc. This component, XPC, plays an important role in the early steps of global genome NER, especially in damage recognition, open complex formation, and repair protein complex formation.
Clinical significance
Mutations in this gene or some other NER components result in Xeroderma pigmentosumXeroderma pigmentosum
Xeroderma pigmentosum, or XP, is an autosomal recessive genetic disorder of DNA repair in which the ability to repair damage caused by ultraviolet light is deficient. In extreme cases, all exposure to sunlight must be forbidden, no matter how small. Multiple basal cell carcinomas and other skin...
, a rare autosomal recessive disorder characterized by increased sensitivity to sunlight with the development of carcinomas at an early age.
Interactions
XPC (gene) has been shown to interactProtein-protein interaction
Protein–protein interactions occur when two or more proteins bind together, often to carry out their biological function. Many of the most important molecular processes in the cell such as DNA replication are carried out by large molecular machines that are built from a large number of protein...
with ABCA1
ABCA1
ATP-binding cassette transporter ABCA1 , also known as the cholesterol efflux regulatory protein is a protein which in humans is encoded by the ABCA1 gene...
, CETN2
CETN2
Centrin-2 is a protein that in humans is encoded by the CETN2 gene. It belongs to the centrin family of proteins.-Interactions:CETN2 has been shown to interact with XPC.-Further reading:...
and XPB
XPB
XPB is an ATP dependent human DNA helicase that is a part of the TFIIH transcription factor complex.-Structure:The 3D structure of the archeael homologue of XPB has been solved by X-ray crystallography by Dr...
.