Leucine Rich Repeats and Calponin Homology Domain Containing 3

Alternative Names

  • LRCH3
  • Leucine-Rich Repeat And Calponin Homology Domain-Containing Protein
  • Leucine-Rich Repeats And Calponin Homology (CH) Domain Containing
  • DISP Complex Protein LRCH3
  • MGC4126
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NCBI Gene ID

84859

Uniprot ID

Q96II8

Length

97,211 bases

No. of Exons

25

No. of isoforms

4

Protein Name

DISP complex protein LRCH3

Molecular Mass

86083 Da

Amino Acid Count

777

Genomic Location

chr3:197,791,226-197,888,436

Gene Map Locus
3q29

Description

Involved in septin cytoskeleton organization. Located in cytosol. [From Alliance of Genome Resources]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001365716.1:c.761A>GSyriaNC_000003.12:g.197826998A>GLikely PathogenicNM_001365716.1:c.761A>G; NP_001352645.1:p.Gln254Arg367782751
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