Lon Peptidase 1, Mitochondrial

Alternative Names

LONP1
Lon, E. Coli, Homolog Of
LON
Protease, Serine, 15
PRSS15

Length

28,619 bases

No. of Exons

No. of isoforms

Protein Name

Lon protease homolog, mitochondrial

Molecular Mass

106489 Da

Amino Acid Count

959

Genomic Location

chr19:5,691,834-5,720,452

Gene Map Locus

19p13.3

Description

This gene encodes a mitochondrial matrix protein that belongs to the Lon family of ATP-dependent proteases. This protein mediates the selective degradation of misfolded, unassembled or oxidatively damaged polypeptides in the mitochondrial matrix. It may also have a chaperone function in the assembly of inner membrane protein complexes, and participate in the regulation of mitochondrial gene expression and maintenance of the integrity of the mitochondrial genome. [From RefSeq]

Epidemiology in the Arab World

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Saudi Arabia

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_004793.4:c.1612C>T	Saudi Arabia	NC_000019.10:g.5699100G>A	Benign, Likely Pathogenic, Uncertain Significance	Pathogenic	LONP1 Related Cataract	NG_033142.1:g.26353C>T; NM_004793.4:c.1612C>T; NP_004784.2:p.Arg538Cys	201664019	1191443
NM_004793.4:c.2014C>T	Saudi Arabia	NC_000019.10:g.5694901G>A	Likely Pathogenic, Uncertain Significance	Likely Pathogenic, Pathogenic	LONP1 Related Cataract	NG_033142.1:g.30552C>T; NM_004793.4:c.2014C>T; NP_004784.2:p.Arg672Cys	777009012	931723
NM_004793.4:c.44G>C	Saudi Arabia	NC_000019.10:g.5720089C>G	Pathogenic	Pathogenic	CODAS Syndrome	NG_033142.1:g.5364G>C; NM_004793.4:c.44G>C; NP_004784.2:p.Arg15Pro	2055414315

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External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=LONP1

Contributors

Sayeeda Hana: 22.02.2023

Edit History

Sayeeda Hana: 22.02.2023

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