SEPSECS

On this page, you will find information about genetic changes that were identified in a UDN participant.

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Changes in this gene were identified in a female, age 3 with pontocerebellar hypoplasia, type 2D (read full description).

Date of Report

Nov 09, 2017

Full Name

Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase

Location

Chromosome 4 (4p15.2)

SEPSECS-Chr4.25146751_25146752.jpg

Function

The SEPSECS gene codes for an enzyme important in the formation of a transfer RNA (tRNA). This tRNA is involved in the production of a protein building block called selenocysteine (MedlinePlus Genetics).

Database Links

GeneCards: SEPSECS

MedlinePlus Genetics: SEPSECS

NCBI Gene: 51091

OMIM: 613009

UniProtKB/Swiss-Prot: Q9HD40

Clinical Significance

Changes in the SEPSECS gene were identified in a UDN participant with pontocerebellar hypoplasia, type 2D.

Gene SEPSECS

Inheritance Pattern Autosomal recessive

Position (hg19) chr4:g.25146756dup & g.25146714C>T

Transcript NM_016955.3

DNA Change c.808dupG & c.846G>A

Protein Change p.Ala270GlyfsTer5 & p.Leu282=

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