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Relevance to Autism

Rare mutations in the XPC gene have been identified with autism (Khan et al., 1998). In addition, XPC mutations have been found to be identified with xeroderma pigmentosum (syndromic with autism), where a subpopulation of individuals with XP develop autism.

Molecular Function

This gene encodes a component of the nucleotide excision repair (NER) pathway. It acts as a damage-sensing and DNA-binding factor component of the XPC complex.

External Links

       

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Xeroderma pigmentosum group C splice mutation associated with autism and hypoglycinemia.
Xeroderma pigmentosum
ASD
Highly Cited
UV-induced ubiquitylation of XPC protein mediated by UV-DDB-ubiquitin ligase complex.
Highly Cited
Hypoglycinaemia and psychomotor delay in a child with xeroderma pigmentosum.
Xeroderma pigmentosum
Highly Cited
The DNA repair-ubiquitin-associated HR23 proteins are constituents of neuronal inclusions in specific neurodegenerative disorders without hampering DNA repair.
Highly Cited
Structure of a peptide:N-glycanase-Rad23 complex: insight into the deglycosylation for denatured glycoproteins.
Recent Recommendation
Two human homologs of Rad23 are functionally interchangeable in complex formation and stimulation of XPC repair activity.
Recent Recommendation
HHR23B, a human Rad23 homolog, stimulates XPC protein in nucleotide excision repair in vitro.
Recent Recommendation
High susceptibility to ultraviolet-induced carcinogenesis in mice lacking XPC.

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN267R001 
 Deletion 
 N/A 
 N/A 
  
  
  
 GEN267R002 
 Deletion-insertion 
 N/A 
 N/A 
  
  
  

Common

No Common Variants Available

No Gene Score Data Available

No Animal Model Data Available



Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
ATM ?ataxia telangiectasia mutated 472 Q13315 IP/WB (HeLa cells)
Ray A 2009
BANF1 barrier to autointegration factor 1 8815 O75531 affinity chromatography (HeLa cells)
Montes de Oca R 2009
CDK7 cyclin-dependent kinase 7 1022 P50613 IP/WB (HeLa cells)
Ara˙jo SJ 2001
CETN2 centrin, EF-hand protein, 2 1069 P41208 affinity chromatography (HeLa cells)
in vitro binding assay
IP/WB (HeLa cells)
Araki M 2001
DDB1 damage-specific DNA binding protein 1, 127kDa 1642 Q16531 in vitro binding assay
IP/WB (V79 cells)
Sugasawa K 2005
DDB2 damage-specific DNA binding protein 2, 48kDa 1643 Q92466 in vitro binding assay
IP/WB (V79 cells)
Sugasawa K 2005
ERCC3 excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing)? 2071 P19447 GST (HeLa cells)
Yokoi M 2000
FMR1 fragile X mental retardation 1 2332 G8JLE9 PAR-CLIP (HEK293 cells)
Ascano M Jr 2012
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) 3091 Q16665 ChIP (human keratinocytes)
EMSA (human keratinocytes)
luciferase reporter assay (human keratinocytes)
Rezvani HR 2010
HMGB1 high-mobility group box 1 3146 P09429 affinity chromatography (purified proteins)
EMSA (purified proteins)
Lange SS 2009
LSM3 LSM3 homolog, U6 small nuclear RNA associated (S. cerevisiae) 27258 P62310 Y2H
Lehner B 2004
RAD23A RAD23 homolog A (S. cerevisiae) 5886 P54725 Y2H
Li L 1997
RAD23B RAD23 homolog B (S. cerevisiae) 5887 P54727 affinity chromatography (HeLa cells)
Araki M 2001
RB1 retinoblastoma 1 5925 P06400 IP/WB (H1299 cells)
Hardy TM 2010
SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 6598 Q12824 IP/WB (HeLa cells)
Ray A 2009
SMUG1 single-strand-selective monofunctional uracil-DNA glycosylase 1 23583 Q53HV7 GST (XP4PASV cells)
Shimizu Y 2010
SUMO1 ?SMT3 suppressor of mif two 3 homolog 1 (S. cerevisiae)? 7341 P63165 IP/WB (OSU-2 cells)
IP/WB (XP-C cells)
Wang QE 2005
TDG thymine-DNA glycosylase 6996 Q13569 EMSA (DNA fragments)
GST
Y2H
Shimizu Y 2003
UBC ubiquitin C? 7316 P63279 in vitro ubiquitination assay
IP/WB (XP4PASV cells)
Sugasawa K 2005
UBE4B ubiquitination factor E4B 10277 O95155 IP/WB (HEK293 cells)
IP/WB (yeast)
Li Y 2010
E2f4 E2F transcription factor 4 104394 Q8R0K9 ChIP (MEF cells)
luciferase reporter assay (MEF cells)
Dominguez-Brauer C 2009

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