What is the official name of the LAMA4 gene?
The official name of this gene is “laminin, alpha 4.”
LAMA4 is the gene's official symbol. The LAMA4 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 LAMA4 gene?
- From NCBI Gene:
Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the alpha chain isoform laminin, alpha 4. The domain structure of alpha 4 is similar to that of alpha 3, both of which resemble truncated versions of alpha 1 and alpha 2, in that approximately 1,200 residues at the N-terminus (domains IV, V and VI) have been lost. Laminin, alpha 4 contains the C-terminal G domain which distinguishes all alpha chains from the beta and gamma chains. The RNA analysis from adult and fetal tissues revealed developmental regulation of expression, however, the exact function of laminin, alpha 4 is not known. Tissue-specific utilization of alternative polyA-signal has been described in literature. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Aug 2011]
- From UniProt:
Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components.
NOTE: UniProt suggests using caution when interpreting this information.
How are changes in the LAMA4 gene related to health conditions?
- Genetics Home Reference provides information about familial dilated cardiomyopathy, which is associated with changes in the LAMA4 gene.
- UniProt provides the following information about the LAMA4 gene's known or predicted involvement in human disease.
Cardiomyopathy, dilated 1JJ (CMD1JJ): A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. 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 LAMA4 gene.
- Dilated cardiomyopathy 1JJ
- 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 LAMA4 gene located?
Cytogenetic Location: 6q21
Molecular Location on chromosome 6: base pairs 112,107,930 to 112,254,721
The LAMA4 gene is located on the long (q) arm of chromosome 6 at position 21.
More precisely, the LAMA4 gene is located from base pair 112,107,930 to base pair 112,254,721 on chromosome 6.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about LAMA4?
You and your healthcare professional may find the following resources about LAMA4 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 LAMA4 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 LAMA4?
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.