XRCC1 gene

X-ray repair cross complementing 1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

The protein encoded by this gene is involved in the efficient repair of DNA single-strand breaks formed by exposure to ionizing radiation and alkylating agents. This protein interacts with DNA ligase III, polymerase beta and poly (ADP-ribose) polymerase to participate in the base excision repair pathway. It may play a role in DNA processing during meiogenesis and recombination in germ cells. A rare microsatellite polymorphism in this gene is associated with cancer in patients of varying radiosensitivity. [provided by RefSeq, Jul 2008]

From UniProt:

Involved in DNA single-strand break repair by mediating the assembly of DNA break repair protein complexes. Probably during DNA repair, negatively regulates ADP-ribose levels by modulating ADP-ribosyltransferase PARP1 activity.

From NCBI Gene:

  • SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26

From UniProt:

Spinocerebellar ataxia, autosomal recessive, 26 (SCAR26): A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR26 is a progressive disease characterized by gait and limb ataxia, loss of independent ambulation, oculomotor apraxia, and peripheral neuropathy with distal muscle weakness and areflexia. [MIM:617633]

Cytogenetic Location: 19q13.31, which is the long (q) arm of chromosome 19 at position 13.31

Molecular Location: base pairs 43,543,312 to 43,575,578 on chromosome 19 (Homo sapiens Annotation Release 109, GRCh38.p12) (NCBI)

Cytogenetic Location: 19q13.31, which is the long (q) arm of chromosome 19 at position 13.31
  • RCC
  • SCAR26