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Gene

LRSAM1

leucine rich repeat and sterile alpha motif containing 1

Summary

Cytogenetic location
9q33.3-q34.11
Coordinates
Chromosome 9: 127,451,510–127,503,499 (GRCh38)
Exons
26 exons across 52 kb
Protein
723 amino acids
Also known as
FLJ31641, CMT2P, RIFLE, TAL
MANE Select transcript
ENST00000300417.11NM_001005373.4
Locus type
gene with protein product

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

    • Charcot-Marie-Tooth Disease

      • One of 62 genes linked to it

        A group of inherited peripheral neuropathies causing progressive weakness and wasting of the distal muscles and loss of sensation, mainly in the feet and hands.

        • ClinGen rates the link definitive
        • 3 GenCC submitters rate it definitive or strong
        What knowing changes

        Genetic counseling, subtype-specific monitoring, physical therapy, orthotics, neurotoxic drug avoidance, gene-specific clinical trials, surveillance for associated features

    How LRSAM1 is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    • Stretches short reads find hard
    Chromosome 9, with a bracket where LRSAM1 sits. LRSAM1 and 23 genes near it on chromosome 9, from 126,977,505 to 127,977,504.Chromosome 99q33.3-q34.11p24.3p24.2p24.1p23p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q13q21.11q21.12q21.13q21.2q21.31q21.32q21.33q22.1q22.2q22.31q22.32q22.33q31.1q31.2q31.3q32q33.1q33.2q33.3q34.11q34.12q34.13q34.2q34.3127 Mb127.2 Mb127.4 Mb127.6 Mb127.8 MbRALGPS1: 126,914,761–127,223,166, forward strandRALGPS1ANGPTL2: 127,087,333–127,122,786, reverse strandANGPTL2GARNL3: 127,224,265–127,393,683, forward strandGARNL3SLC2A8: 127,397,131–127,408,424, forward strandSLC2A8ZNF79: 127,424,374–127,449,728, forward strandZNF79RPL12: 127,447,422–127,452,094, reverse strandRPL12LRSAM1: 127,451,510–127,503,499, forward strandLRSAM1NIBAN2: 127,505,339–127,579,049, reverse strandNIBAN2STXBP1: 127,579,370–127,696,027, forward strandSTXBP1PTRH1: 127,690,102–127,724,885, reverse strandPTRH1CFAP157: 127,706,979–127,716,002, forward strandCFAP157TTC16: 127,716,074–127,731,590, forward strandTTC16TOR2A: 127,731,516–127,735,355, reverse strandTOR2ASH2D3C: 127,738,317–127,778,771, reverse strandCDK9: 127,785,252–127,792,871, forward strandCDK9FPGS: 127,794,597–127,815,065, forward strandFPGSENG: 127,811,130–127,855,232, reverse strandENGAK1: 127,866,435–127,878,558, reverse strandAK1: 127,867,850–127,906,022, reverse strandST6GALNAC6: 127,885,320–127,906,632, reverse strandST6GALNAC6ST6GALNAC4: 127,906,919–127,917,057, reverse strandST6GALNAC4PIP5KL1: 127,920,881–127,930,823, reverse strandPIP5KL1DPM2: 127,935,090–127,937,879, reverse strandDPM2EEIG1: 127,939,491–127,981,075, reverse strandDiagram of LRSAM1: 26 exons on the forward strand of chromosome 9Exon 4: 1 known disease-causing siteExon 5: 1 known disease-causing siteExon 7: 1 known disease-causing siteExon 8: 3 known disease-causing sitesExon 9: 3 known disease-causing sitesExon 10: 1 known disease-causing siteExon 11: 1 known disease-causing siteExon 13: 2 known disease-causing sitesExon 14: 5 known disease-causing sitesExon 16: 3 known disease-causing sitesExon 18: 2 known disease-causing sitesExon 19: 1 known disease-causing siteExon 20: 1 known disease-causing siteExon 21: 2 known disease-causing sitesExon 22: 5 known disease-causing sitesExon 23: 2 known disease-causing sitesExon 24: 1 known disease-causing siteExon 25: 13 known disease-causing sitesExon 26: 13 known disease-causing sitesExon 1: 127,451,510–127,451,669, 160 basesExon 2: 127,451,929–127,452,084, 156 basesExon 3: 127,454,496–127,454,599, 104 basesExon 4: 127,454,998–127,455,054, 57 basesExon 5: 127,455,576–127,455,620, 45 basesExon 6: 127,457,316–127,457,393, 78 basesExon 7: 127,459,003–127,459,071, 69 basesExon 8: 127,461,173–127,461,257, 85 basesExon 9: 127,462,252–127,462,373, 122 basesExon 10: 127,467,740–127,467,830, 91 basesExon 11: 127,473,801–127,473,931, 131 basesExon 12: 127,478,934–127,478,963, 30 basesExon 13: 127,479,383–127,479,505, 123 basesExon 14: 127,479,839–127,479,978, 140 basesExon 15: 127,481,183–127,481,227, 45 basesExon 16: 127,482,950–127,483,020, 71 basesExon 17: 127,485,736–127,485,835, 100 basesExon 18: 127,487,676–127,487,763, 88 basesExon 19: 127,489,444–127,489,518, 75 basesExon 20: 127,491,215–127,491,295, 81 basesExon 21: 127,492,802–127,492,897, 96 basesExon 22: 127,495,320–127,495,418, 99 basesExon 23: 127,495,964–127,496,095, 132 basesExon 24: 127,497,253–127,497,334, 82 basesExon 25: 127,501,010–127,501,143, 134 basesExon 26: 127,502,774–127,503,499, 726 bases1510152025265′3′

    Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

    Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

    Nearby genes from Ensembl release 116, on GRCh38.

    Exons make up 3.1 kb of the gene's 52 kb; 2,172 of those bases code for the protein.

    How a genome test reads LRSAM1

    79

    positions in LRSAM1 where ClinVar classes a change as pathogenic or likely pathogenic

    None of them falls in a region short reads find hard.

    A whole genome covers all 52 kb of LRSAM1, introns included, not only the 3.1 kb of exons.

    Where this comes from

    • HGNC: the gene's symbol, name, other symbols and location.
    • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
    • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
    • The ACMG secondary findings list, SF v3.2.
    • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
    • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
    • Data release 2026.10.16-c6eea6bf.

    Cite this page

    APA

    Dante Labs. (n.d.). LRSAM1 gene: leucine rich repeat and sterile alpha motif containing 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/lrsam1

    Vancouver

    Dante Labs. LRSAM1 gene: leucine rich repeat and sterile alpha motif containing 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/lrsam1

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