LYR Motif-Containing Protein 4

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Alternative Names

  • LYRM4
  • ISD11, S. Cerevisiae, Homolog Of
  • ISD11
  • Chromosome 6 Open Reading Frame 149
  • C6ORF149

Associated Diseases

Combined Oxidative Phosphorylation Deficiency 19
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OMIM Number

613311

NCBI Gene ID

57128

Uniprot ID

Q9HD34

Length

229,922 bases

No. of Exons

13

No. of isoforms

1

Protein Name

LYR motif-containing protein 4

Molecular Mass

10758 Da

Amino Acid Count

91

Genomic Location

chr6:5,031,028-5,260,949

Gene Map Locus
6p25.1

Description

The protein encoded by this gene is found in both mitochondria and the nucleus, where it binds cysteine desulfurase and helps free inorganic sulfur for Fe/S clusters. Disruption of this gene negatively impacts mitochondrial and cytosolic iron homeostasis. [From RefSeq]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_020408.6:c.203G>TLebanon; SyriaPathogenicPathogenicCombined Oxidative Phosphorylation Deficiency 19NG_051651.1:g.49329G>T; NC_000006.12:g.5216622C>A; NM_020408.6:c.203G>T; NP_065141.3:p.Arg68Leu587777218102450
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External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=lyrm4

Contributors

  • Sayeeda Hana: 06.01.2021

Edit History

  • Sayeeda Hana: 06.01.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.