View TSEN54 gene homepage

General information
Gene symbol TSEN54
Gene name tRNA splicing endonuclease 54 homolog (S. cerevisiae)
Chromosome 17
Chromosomal band q25.1
Imprinted Unknown
Genomic reference NG_013041.1
Transcript reference NM_207346.2
Associated with diseases PCH-2A, PCH-4, PCH-5
Citation reference(s) -
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 0
Unique public DNA variants reported 0
Individuals with public variants 0
Hidden variants 0
Date created May 03, 2013

Links to other resources
HGNC 27561
Entrez Gene 283989
PubMed articles TSEN54
OMIM - Gene 608755
OMIM - Diseases PCH-2A (hypoplasia, pontocerebellar, type 2A (PCH-2A))
PCH-4 (hypoplasia, pontocerebellar, type 4 (PCH-4))
PCH-5 (hypoplasia, pontocerebellar?, type 5 (PCH-5))

Active transcripts




NCBI ID     

NCBI Protein ID     

00021935 17 tRNA splicing endonuclease 54 homolog (S. cerevisiae) NM_207346.2 NP_997229.2 0