MARS1

On this page, you will find information about a genetic change that was identified in a UDN participant. We are trying to find others with the same or similar condition.

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Compound heterozygous changes in the MARS1 gene were identified in a UDN participant with global developmental delay, eye and vision abnormalities, and gastrointestinal dysmotility.

Date of Report

Jun 10, 2025

Full Name

Methionyl-TRNA Synthetase 1

Location

Chromosome 12 (12q13.3)

Function

This gene encodes for a protein that plays an important role in protein biosynthesis as a component of the multi-tRNA synthetase complex and it catalyzes ligation of methionine to tRNA molecules [provided by RefSeq, Jan 2011].

Database Links

GeneCards: MARS1

NCBI Gene: 4141

OMIM: 156560

UniProtKB/Swiss-Prot: P56192

Clinical Significance

Compound heterozygous changes in this gene were identified in a UDN participant.

Gene MARS1

Inheritance Pattern Autosomal dominant and recessive

Position (hg19) chr12:g.57894114G>T; chr12:g.57910230C>T

Transcript NM_004990.4

DNA Change c.1102G>T; c.2569C>T

Protein Change p.Asp368Tyr; p.Arg857Ter

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