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FLASH GENE

Symbol

XRCC1

contributors: shn/npt/pgu - updated : 19-10-2018

HGNC name	X-ray repair complementing defective repair in Chinese hamster cells 1
HGNC id	12828

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

SCAR26

Susceptibility

to squamous cell carcinoma of the head and neck and for tabacco and age related DNA damage to gastric cancer to breast cancer to glioma to testicular germ cell tumors to development of childhood ALL to systemic lupus erythematosus (SLE)

Variant & Polymorphism SNP , other	A194T increasing the risk of squamous cell carcinoma of the head and neck
	haplotype D (194Arg, 280Arg, and 399Arg alleles) is a risk type for gastric cancer
	polymorphisms at the codon 194 and 399 increasing the risk of breast cancer
	polymorphisms associated with the susceptibility and chromosomal aberration of testicular germ cell tumors
	may be associated with the progression of primary open-angle glaucoma in male patients of Pakistani origin (
	EPHX1 Tyr113His polymorphism together with DNA protein XRCC1 Arg399Gln variant known for its deficient DNA repair capacity would represent more prominent risk factors for the development of childhood ALL
	XRCC1 Arg399Gln polymorphism might be associated with genetic susceptibility to SLE
	XRCC1 399Gln and 194Trp variants increase glioma risk

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	Xrcc1 null mice are morphologically abnormal (increased cell death in the epiblast and an altered morphology in the visceral embryonic endoderm) and die around embryonic day 7
	mice with neural-specific inactivation of Xrcc1 exhibit profound neuropathology characterized by loss of cerebellar interneurons and persistence of DNA strand breaks throughout the nervous system and abnormal hippocampal function