Logo
full name
DNA cross-link repair 1C

synonyms
A-SCID, DCLREC1C, hSNM1C, RS-SCID, SCIDA, SNM1C, DCLRE1C, ENSG00000152457

HGNC
HGNC:17642

Entrez Gene
Gene:64421

ENSEMBL
ENSG00000152457

location
chr: 10
start: 14948870
stop: 14996106
strand: -

OMIM
OMIM:605988: DCLRE1C (Autosomal recessive inheritance)
OMIM:603554: Omenn syndrome
OMIM:602450: Severe combined immunodeficiency, Athabascan type

transcripts
NM_022487.2
NM_001033855.1
NM_001033857.1
NM_001033858.1

pathways
DNA Double-Strand Break Repair [NCBI:1309095] [REACTOME:R-HSA-5693532] [PUBMED:12897142] [PUBMED:20965415]
DNA Repair [NCBI:1270350] [REACTOME:R-HSA-73894] [PUBMED:10583946] [PUBMED:23175119]
Non-homologous end-joining [NCBI:83047] [KEGG:hsa03450] [PUBMED:17506672] [PUBMED:15578053] [PUBMED:16971555] [PUBMED:17589524] [PUBMED:12215643] [PUBMED:16895466]
Nonhomologous End-Joining (NHEJ) [NCBI:1309110] [REACTOME:R-HSA-5693571] [PUBMED:10802669] [PUBMED:21293379] [PUBMED:16914548] [PUBMED:12509254] [PUBMED:12607005] [PUBMED:17470781] [PUBMED:12364621] [PUBMED:11493912] [PUBMED:23333306] [PUBMED:22179609] [PUBMED:25512557] [PUBMED:22529269] [PUBMED:23505375] [PUBMED:15574327] [PUBMED:12077346] [PUBMED:11030616] [PUBMED:14561766] [PUBMED:8422676] [PUBMED:23727112] [PUBMED:17525340] [PUBMED:23306437] [PUBMED:10757784] [PUBMED:16439205] [PUBMED:10959836] [PUBMED:15790808] [PUBMED:16377563] [PUBMED:11955432] [PUBMED:22373579] [PUBMED:19001859] [PUBMED:12023295] [PUBMED:15451442] [PUBMED:16093244] [PUBMED:10572166]
Primary immunodeficiency [NCBI:83125] [KEGG:hsa05340] [PUBMED:11941303] [PUBMED:18093537] [PUBMED:11058677] [PUBMED:17952897] [PUBMED:14699405] [PUBMED:15661024] [PUBMED:14647478] [PUBMED:17960151] [PUBMED:16261175]