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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



Type of Disorder
Associated Disorders
Author, Year
Xeroderma pigmentosum group C splice mutation associated with autism and hypoglycinemia.
Xeroderma pigmentosum
Highly Cited
Structure of a peptide:N-glycanase-Rad23 complex: insight into the deglycosylation for denatured glycoproteins.
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...
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.


Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year


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
Ray A , et al. 2009
BANF1 barrier to autointegration factor 1 8815 O75531 Affinity chromatography
Montes de Oca R , et al. 2009
CDK7 cyclin-dependent kinase 7 1022 P50613 IP/WB
Arajo SJ , et al. 2001
CETN2 centrin, EF-hand protein, 2 1069 P41208 Affinity chromatography; IP/WB; in vitro binding assay
Araki M , et al. 2001
DDB1 damage-specific DNA binding protein 1, 127kDa 1642 Q16531 IP/WB; in vitro binding assay
Sugasawa K , et al. 2005
DDB2 damage-specific DNA binding protein 2, 48kDa 1643 Q92466 IP/WB; in vitro binding assay
Sugasawa K , et al. 2005
ERCC3 excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing) 2071 P19447 GST
Yokoi M , et al. 2000
FMR1 fragile X mental retardation 1 2332 G8JLE9 PAR-CLIP
Ascano M Jr , et al. 2012
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) 3091 Q16665 ChIP; Luciferase reporter assay; EMSA
Rezvani HR , et al. 2009
HMGB1 high-mobility group box 1 3146 P09429 EMSA; Affinity chromatography
Lange SS , et al. 2009
LSM3 LSM3 homolog, U6 small nuclear RNA associated (S. cerevisiae) 27258 P62310 Y2H
Lehner B and Sanderson CM 2004
RAD23A RAD23 homolog A (S. cerevisiae) 5886 P54725 Y2H
Li L , et al. 1997
RAD23B RAD23 homolog B (S. cerevisiae) 5887 P54727 Affinity chromatography
Araki M , et al. 2001
RB1 retinoblastoma 1 5925 P06400 IP/WB
Hardy TM , et al. 2010
SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 6598 Q12824 IP/WB
Ray A , et al. 2009
SMUG1 single-strand-selective monofunctional uracil-DNA glycosylase 1 23583 Q53HV7 GST
Shimizu Y , et al. 2010
SUMO1 SMT3 suppressor of mif two 3 homolog 1 (S. cerevisiae) 7341 P63165 IP/WB
Wang QE , et al. 2005
TDG thymine-DNA glycosylase 6996 Q13569 Y2H; GST; EMSA
Shimizu Y , et al. 2002
UBC ubiquitin C 7316 P63279 IP/WB; in vitro ubiquitination assay
Sugasawa K , et al. 2005
UBE4B ubiquitination factor E4B 10277 O95155 IP/WB
Li Y , et al. 2009
E2f4 E2F transcription factor 4 104394 Q8R0K9 ChIP; Luciferase reporter assay
Dominguez-Brauer C , et al. 2009