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Reviewed September 2011
What is the official name of the COL4A1 gene?
The official name of this gene is “collagen, type IV, alpha 1.”
COL4A1 is the gene's official symbol. The COL4A1 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 COL4A1 gene?
The COL4A1 gene provides instructions for making one component of type IV collagen, which is a flexible protein important in the structure of many tissues throughout the body. Specifically, this gene makes the alpha1(IV) chain of type IV collagen. This chain combines with another alpha1 chain and a different type of alpha (IV) chain called alpha2 to make a complete type IV collagen alpha1-1-2 molecule. Type IV collagen molecules attach to each other to form complex protein networks. These protein networks are the main component of basement membranes, which are thin sheet-like structures that separate and support cells in many tissues. Type IV collagen alpha1-1-2 networks play an important role in the basement membranes in virtually all tissues throughout the body, particularly the basement membranes surrounding the body's blood vessels (vasculature). The type IV collagen network helps the basement membranes interact with nearby cells, playing a role in cell movement (migration), cell growth and division (proliferation), cell maturation (differentiation), and the survival of cells.
Does the COL4A1 gene share characteristics with other genes?
The COL4A1 gene belongs to a family of genes called COL (collagens).
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? in the Handbook.
How are changes in the COL4A1 gene related to health conditions?
Where is the COL4A1 gene located?
Cytogenetic Location: 13q34
Molecular Location on chromosome 13: base pairs 110,148,957 to 110,307,156
The COL4A1 gene is located on the long (q) arm of chromosome 13 at position 34.
More precisely, the COL4A1 gene is located from base pair 110,148,957 to base pair 110,307,156 on chromosome 13.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about COL4A1?
You and your healthcare professional may find the following resources about COL4A1 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
What other names do people use for the COL4A1 gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
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 COL4A1?
acids ; amino acid ; basement membrane ; basement membranes ; cell ; collagen ; cysts ; differentiation ; domain ; familial ; gene ; glycine ; hereditary ; kidney ; molecule ; nephropathy ; proliferation ; protein ; substitution ; syndrome ; vascular
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (6 links)
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 healthcare professional. See How can I find a genetics professional in my area? in the Handbook.