Gene: XPC

Alternate names for this Gene: RAD4|XP3|XPCC|p125

Gene Summary: The protein encoded by this gene is a key component of the XPC complex, which plays an important role in the early steps of global genome nucleotide excision repair (NER). The encoded protein is important for damage sensing and DNA binding, and shows a preference for single-stranded DNA. Mutations in this gene or some other NER components can result in Xeroderma pigmentosum, a rare autosomal recessive disorder characterized by increased sensitivity to sunlight with the development of carcinomas at an early age. Alternatively spliced transcript variants have been found for this gene.

Gene is located in Chromosome: 3

Location in Chromosome : 3p25.1

Description of this Gene: XPC complex subunit, DNA damage recognition and repair factor

Type of Gene: protein-coding

Gene: LSM3

Alternate names for this Gene: SMX4|USS2|YLR438C

Gene Summary: Sm-like proteins were identified in a variety of organisms based on sequence homology with the Sm protein family (see SNRPD2; MIM 601061). Sm-like proteins contain the Sm sequence motif, which consists of 2 regions separated by a linker of variable length that folds as a loop. The Sm-like proteins are thought to form a stable heteromer present in tri-snRNP particles, which are important for pre-mRNA splicing.[supplied by OMIM, Apr 2004]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BM693722.1, SRR1660803.47170.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000306024.4/ ENSP00000302160.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END##

Gene is located in Chromosome: 3

Location in Chromosome : 3p25.1

Description of this Gene: LSM3 homolog, U6 small nuclear RNA and mRNA degradation associated

Type of Gene: protein-coding

rs763678756 in XPC;LSM3 gene and XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C PMID 18955168 2009 XPC initiation codon mutation in xeroderma pigmentosum patients with and without neurological symptoms.