full name
tRNA splicing endonuclease subunit 54

synonyms
PCH2A, PCH4, sen54, SEN54L, TSEN54, ENSG00000182173

HGNC
HGNC:27561

Entrez Gene
Gene:283989

ENSEMBL
ENSG00000182173

location
chr: 17
start: 73512609
stop: 73520821
strand: +

OMIM
OMIM:608755: TSEN54 (Autosomal recessive inheritance)
OMIM:610204: ?Pontocerebellar hypoplasia type 5
OMIM:277470: Pontocerebellar hypoplasia type 2A
OMIM:225753: Pontocerebellar hypoplasia type 4

transcripts
NM_207346.2

pathways
Gene Expression [NCBI:1269649] [REACTOME:R-HSA-74160]
tRNA processing [NCBI:1309088] [REACTOME:R-HSA-72306] [PUBMED:24315934] [PUBMED:24917879] [PUBMED:7759547] [PUBMED:24898039] [PUBMED:26016801] [PUBMED:24490730] [PUBMED:20810645] [PUBMED:21910628]
tRNA processing in the nucleus [NCBI:1309089] [REACTOME:R-HSA-6784531] [PUBMED:12045094] [PUBMED:20101632] [PUBMED:20716516] [PUBMED:20810645] [PUBMED:21572561] [PUBMED:16040803] [PUBMED:16061803] [PUBMED:22426497] [PUBMED:25755220] [PUBMED:16364630] [PUBMED:24596576] [PUBMED:15879697] [PUBMED:24898039] [PUBMED:11871657]