What is the official name of the LRSAM1 gene?
The official name of this gene is “leucine rich repeat and sterile alpha motif containing 1.”
LRSAM1 is the gene's official symbol. The LRSAM1 gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the LRSAM1 gene?
- From NCBI Gene:
This gene encodes a ring finger protein involved in a variety of functions, including regulation of signaling pathways and cell adhesion, mediation of self-ubiquitylation, and involvement in cargo sorting during receptor endocytosis. Mutations in this gene have been associated with Charcot-Marie-Tooth disease. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jan 2012]
- From UniProt:
E3 ubiquitin-protein ligase that mediates monoubiquitination of TSG101 at multiple sites, leading to inactivate the ability of TSG101 to sort endocytic (EGF receptors) and exocytic (HIV-1 viral proteins) cargos.
How are changes in the LRSAM1 gene related to health conditions?
- Genetics Home Reference provides information about Charcot-Marie-Tooth disease, which is associated with changes in the LRSAM1 gene.
- UniProt provides the following information about the LRSAM1 gene's known or predicted involvement in human disease.
Charcot-Marie-Tooth disease 2P (CMT2P): An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. Nerve conduction velocities are normal or slightly reduced. The disease is caused by mutations affecting the gene represented in this entry.
- NCBI Gene lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the LRSAM1 gene.
- Charcot-Marie-Tooth disease type 2P
- UniProt and NCBI Gene cite these articles in OMIM, a catalog designed for genetics professionals and researchers that provides detailed information about genetic conditions and genes.
Where is the LRSAM1 gene located?
Cytogenetic Location: 9q33.3
Molecular Location on chromosome 9: base pairs 127,451,485 to 127,503,500
The LRSAM1 gene is located on the long (q) arm of chromosome 9 at position 33.3.
More precisely, the LRSAM1 gene is located from base pair 127,451,485 to base pair 127,503,500 on chromosome 9.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about LRSAM1?
You and your healthcare professional may find the following resources about LRSAM1 helpful.
- Genetic Testing Registry - Repository of genetic test information
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- OMIM - Genetic disorder catalog
- Research Resources - Tools for researchers
What other names do people use for the LRSAM1 gene or gene products?
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding LRSAM1?
The resources on this site should not be used as a substitute for
professional medical care or advice. Users seeking information about
a personal genetic disease, syndrome, or condition should consult with a qualified
See How can I find a genetics professional in my area? in the Handbook.