DCLRE1C

Name

DNA cross-link repair 1C

Type

protein-coding

Position

14,897,359–14,954,432 (−)

Aliases

A-SCID, DCLREC1C, RS-SCID, SCIDA, SNM1C

Ensembl

ENSG00000152457

RefSeq RNA

NM_001033855.3, NM_001033857.3, NM_001033858.3, NM_001289076.2, NM_001289077.2

RefSeq protein

NP_001029027.1, NP_001029029.1, NP_001029030.1, NP_001276005.1, NP_001276006.1

This gene encodes a nuclear protein that is involved in V(D)J recombination and DNA repair. The encoded protein has single-strand-specific 5'-3' exonuclease activity; it also exhibits endonuclease activity on 5' and 3' overhangs and hairpins. The protein also functions in the regulation of the cell cycle in response to DNA damage. Mutations in this gene can cause Athabascan-type severe combined immunodeficiency (SCIDA) and Omenn syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014].

via MyGene.info

Gene · Ensembl

DNA cross-link repair 1C

Symbol

DCLRE1C

Biotype

Protein coding

Organism

Homo sapiens

Location

10:14,897,359-14,954,432

Strand

Reverse (−)

Assembly

GRCh38