Gene: SEPSECS

Alternate names for this Gene: LP|PCH2D|SLA|SLA/LP

Gene Summary: The amino acid selenocysteine is the only amino acid that does not have its own tRNA synthetase. Instead, this amino acid is synthesized on its cognate tRNA in a three step process. The protein encoded by this gene catalyzes the third step in the process, the conversion of O-phosphoseryl-tRNA(Sec) to selenocysteinyl-tRNA(Sec).

Gene is located in Chromosome: 4

Location in Chromosome : 4p15.2

Description of this Gene: Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase

Type of Gene: protein-coding

rs1553881510 in SEPSECS gene and Muscle hypotonia PMID 26115735 2015 Selenoprotein biosynthesis defect causes progressive encephalopathy with elevated lactate.

PMID 26805434 2016 Pontocerebellar hypoplasia type 2D and optic nerve atrophy further expand the spectrum associated with selenoprotein biosynthesis deficiency.

PMID 20920667 2010 Mutations disrupting selenocysteine formation cause progressive cerebello-cerebral atrophy.

PMID 12920088 2003 Progressive cerebellocerebral atrophy: a new syndrome with microcephaly, mental retardation, and spastic quadriplegia.

PMID 26888482 2016 Milder progressive cerebellar atrophy caused by biallelic SEPSECS mutations.

PMID 25044680 2014 Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families.

rs1461368206 in SEPSECS gene and PONTOCEREBELLAR HYPOPLASIA, TYPE 2D PMID 26115735 2015 Selenoprotein biosynthesis defect causes progressive encephalopathy with elevated lactate.

PMID 20920667 2010 Mutations disrupting selenocysteine formation cause progressive cerebello-cerebral atrophy.