Human Gene Module / Chromosome 3 / XPC

XPCxeroderma pigmentosum, complementation group C

Score
-
No Rating
Autism Reports / Total Reports
0 / 8
Rare Variants / Common Variants
1 / 0
Aliases
XPC, XP3,  XPCC
Associated Syndromes
-
Genetic Category
Rare Single Gene Mutation, Syndromic
Chromosome Band
3p25.1
Associated Disorders
ASD
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.

Reports related to XPC (8 Reports)
# Type Title Author, Year Autism Report Associated Disorders
1 Highly Cited Hypoglycinaemia and psychomotor delay in a child with xeroderma pigmentosum. Quackenbush EJ , et al. (1999) No -
2 Highly Cited UV-induced ubiquitylation of XPC protein mediated by UV-DDB-ubiquitin ligase complex. Sugasawa K , et al. (2005) No -
3 Highly Cited Structure of a peptide:N-glycanase-Rad23 complex: insight into the deglycosylation for denatured glycoproteins. Lee JH , et al. (2005) No -
4 Highly Cited The DNA repair-ubiquitin-associated HR23 proteins are constituents of neuronal inclusions in specific neurodegenerative disorders without hampering... Bergink S , et al. (2006) No -
5 Recent Recommendation High susceptibility to ultraviolet-induced carcinogenesis in mice lacking XPC. Sands AT , et al. (1995) No -
6 Recent Recommendation HHR23B, a human Rad23 homolog, stimulates XPC protein in nucleotide excision repair in vitro. Sugasawa K , et al. (1996) No -
7 Recent Recommendation Two human homologs of Rad23 are functionally interchangeable in complex formation and stimulation of XPC repair activity. Sugasawa K , et al. (1997) No -
8 Primary Xeroderma pigmentosum group C splice mutation associated with autism and hypoglycinemia. Khan SG , et al. (1998) No ASD
Rare Variants   (1)
Status Allele Change Residue Change Variant Type Inheritance Pattern Parental Transmission Family Type PubMed ID Author, Year
T>G IVS9DS splice_site_variant Unknown - Unknown 9804340 Khan SG , et al. (1998)
Common Variants  

No common variants reported.

CNVs associated with XPC(1 CNVs)
3p25.1 15 Deletion-Duplication 24  /  50
Interaction Table
Interactor Symbol Interactor Name Interactor Organism Interactor Type Entrez ID Uniprot ID
ALX3 Homeobox protein aristaless-like 3 Human Protein Binding 257 O95076
APLF Aprataxin and PNK-like factor Human Protein Binding 200558 Q8IW19
APOBEC3C DNA dC->dU-editing enzyme APOBEC-3C Human Protein Binding 27350 Q9NRW3
NAA40 N-alpha-acetyltransferase 40 Human Protein Binding 79829 Q86UY6
POLB DNA polymerase beta Human Protein Binding 5423 P06746
RPA4 Replication protein A 30 kDa subunit Human Protein Binding 29935 Q13156
SPIN2B Spindlin-2B Human Protein Binding 474343 Q9BPZ2
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