full name
regulator of telomere elongation helicase 1

synonyms
bK3184A7.3, C20orf41, DKCB5, NHL, RTEL, RTEL1, ENSG00000258366

HGNC
HGNC:15888

Entrez Gene
Gene:51750

ENSEMBL
ENSG00000258366

location
chr: 20
start: 62289163
stop: 62327606
strand: +

OMIM
OMIM:608833: RTEL1 (Autosomal recessive inheritance)
OMIM:615190: Dyskeratosis congenita, autosomal dominant 4
OMIM:615190: Dyskeratosis congenita, autosomal recessive 5
OMIM:616373: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3

transcripts
NM_032957.4
NM_016434.3

pathways
Cytosolic iron-sulfur cluster assembly [NCBI:1270230] [REACTOME:R-HSA-2564830] [PUBMED:22609301] [PUBMED:20522543] [PUBMED:16824008] [PUBMED:22382365]
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]
HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA) [NCBI:1309100] [REACTOME:R-HSA-5693567] [PUBMED:20965415]
HDR through Homologous Recombination (HRR) [NCBI:1309102] [REACTOME:R-HSA-5685942] [PUBMED:20965415]
Homology Directed Repair [NCBI:1309099] [REACTOME:R-HSA-5693538] [PUBMED:11242102] [PUBMED:20965415] [PUBMED:11376695] [PUBMED:12427531]
Metabolism [NCBI:1269956] [REACTOME:R-HSA-1430728]
Resolution of D-Loop Structures [NCBI:1309105] [REACTOME:R-HSA-5693537] [PUBMED:12902160] [PUBMED:20965415]
Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA) [NCBI:1309107] [REACTOME:R-HSA-5693554] [PUBMED:16855289] [PUBMED:22593209] [PUBMED:24115439] [PUBMED:20417600] [PUBMED:16648486] [PUBMED:19305001] [PUBMED:18957201]