XRCC4 gene

X-ray repair cross complementing 4

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

From NCBI Gene:

The protein encoded by this gene functions together with DNA ligase IV and the DNA-dependent protein kinase in the repair of DNA double-strand breaks. This protein plays a role in both non-homologous end joining and the completion of V(D)J recombination. Mutations in this gene can cause short stature, microcephaly, and endocrine dysfunction (SSMED). Alternative splicing generates several transcript variants. [provided by RefSeq, Dec 2015]

From UniProt:

Involved in DNA non-homologous end joining (NHEJ) required for double-strand break repair and V(D)J recombination. Binds to DNA and to DNA ligase IV (LIG4). The LIG4-XRCC4 complex is responsible for the NHEJ ligation step, and XRCC4 enhances the joining activity of LIG4. Binding of the LIG4-XRCC4 complex to DNA ends is dependent on the assembly of the DNA-dependent protein kinase complex DNA-PK to these DNA ends.

From NCBI Gene:

  • Short stature, microcephaly, and endocrine dysfunction

From UniProt:

Short stature, microcephaly, and endocrine dysfunction (SSMED): A disease characterized by short stature and microcephaly apparent at birth, progressive post-natal growth failure, and endocrine dysfunction. In affected adults endocrine features include hypergonadotropic hypogonadism, multinodular goiter, and diabetes mellitus. Variable features observed in some patients are progressive ataxia, and lymphopenia or borderline leukopenia. [MIM:616541]

Cytogenetic Location: 5q14.2, which is the long (q) arm of chromosome 5 at position 14.2

Molecular Location: base pairs 83,077,409 to 83,370,333 on chromosome 5 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 5q14.2, which is the long (q) arm of chromosome 5 at position 14.2