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What is the official name of the OSTM1 gene?
The official name of this gene is “osteopetrosis associated transmembrane protein 1.”
OSTM1 is the gene's official symbol. The OSTM1 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 OSTM1 gene?
How are changes in the OSTM1 gene related to health conditions?
Where is the OSTM1 gene located?
Cytogenetic Location: 6q21
Molecular Location on chromosome 6: base pairs 108,041,409 to 108,074,737
(Homo sapiens Annotation Release 107, GRCh38.p2) (
The OSTM1 gene is located on the long (q) arm of chromosome 6 at position 21.
More precisely, the OSTM1 gene is located from base pair 108,041,409 to base pair 108,074,737 on chromosome 6.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about OSTM1?
You and your healthcare professional may find the following resources about OSTM1 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 OSTM1 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 OSTM1?
anemia ; atrophy ; autosomal ; autosomal dominant ; autosomal recessive ; benign ; bone marrow ; central nervous system ; degradation ; domain ; gene ; hepatosplenomegaly ; leucine ; ligase ; macrocephaly ; nervous system ; optic atrophy ; osteoclast ; proteasome ; protein ; recessive ; sclerosis ; thrombocytopenia ; ubiquitin
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
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.