LP188498-2

HARS2 gene

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Description

The HARS2 gene (histidyl-tRNA synthetase 2, mitochondrial) [HGNC Gene ID:4817] is located on chromosome 5q31.3. Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. The protein encoded by this gene is an enzyme belonging to the class II family of aminoacyl-tRNA synthetases. Functioning in the synthesis of histidyl-transfer RNA, the enzyme plays an accessory role in the regulation of protein biosynthesis. The gene is located in a head-to-head orientation with HARS on chromosome five, where the homologous genes likely share a bidirectional promoter. Mutations in this gene are associated with the pathogenesis of Perrault syndrome, which involves ovarian dysgenesis and sensorineural hearing loss. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013] [NCBI Gene ID:23438] Source: National Center for Biotechnology Information (NCBI) Gene

Basic Part Properties

Part Name

HARS2 gene

Part Display Name

HARS2 gene

Part Type

Component (Describes the core component or analyte measured)

Created On

2015-01-05

Construct for LOINC Short Name

HARS2

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