Gene: OSGEP

Alternate names for this Gene: GAMOS3|GCPL1|KAE1|OSGEP1|PRSMG1|TCS3

Gene Summary:

Gene is located in Chromosome: 14

Location in Chromosome : 14q11.2

Description of this Gene: O-sialoglycoprotein endopeptidase

Type of Gene: protein-coding

rs140583554 in OSGEP gene and Dysmorphic features PMID 28805828 2017 Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

PMID 28272532 2017 tRNA N6-adenosine threonylcarbamoyltransferase defect due to KAE1/TCS3 (OSGEP) mutation manifest by neurodegeneration and renal tubulopathy.

rs140076803 in OSGEP gene and GALLOWAY-MOWAT SYNDROME 3 PMID 28805828 2017 Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

PMID 28272532 2017 tRNA N6-adenosine threonylcarbamoyltransferase defect due to KAE1/TCS3 (OSGEP) mutation manifest by neurodegeneration and renal tubulopathy.