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OSTM1

OSTM1

The information on this page was automatically extracted from online scientific databases.

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?

From NCBI GeneThis link leads to a site outside Genetics Home Reference.:

This gene encodes a protein that may be involved in the degradation of G proteins via the ubiquitin-dependent proteasome pathway. The encoded protein binds to members of subfamily A of the regulator of the G-protein signaling (RGS) family through an N-terminal leucine-rich region. This protein also has a central RING finger-like domain and E3 ubiquitin ligase activity. This protein is highly conserved from flies to humans. Defects in this gene may cause the autosomal recessive, infantile malignant form of osteopetrosis. [provided by RefSeq, Jul 2008]

From UniProtThis link leads to a site outside Genetics Home Reference.:

Required for osteoclast and melanocyte maturation and function.

How are changes in the OSTM1 gene related to health conditions?

Genetics Home Reference provides information about osteopetrosis, which is associated with changes in the OSTM1 gene.
UniProtThis link leads to a site outside Genetics Home Reference. provides the following information about the OSTM1 gene's known or predicted involvement in human disease.

Osteopetrosis, autosomal recessive 5 (OPTB5): A rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. Recessive osteopetrosis commonly manifests in early infancy with macrocephaly, feeding difficulties, evolving blindness and deafness, bone marrow failure, severe anemia, and hepatosplenomegaly. Deafness and blindness are generally thought to represent effects of pressure on nerves. OPTB5 patients manifest primary central nervous system involvement in addition to the classical stigmata of severe bone sclerosis, growth failure, anemia, thrombocytopenia and visual impairment with optic atrophy. The disease is caused by mutations affecting the gene represented in this entry.

NCBI GeneThis link leads to a site outside Genetics Home Reference. lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the OSTM1 gene.
  • Osteopetrosis autosomal recessive 5
OMIM.orgThis link leads to a site outside Genetics Home Reference., a catalog designed for genetics professionals and researchers, provides the following information about the OSTM1 gene and its association with health conditions.
OMIM
Number
Title

Where is the OSTM1 gene located?

Cytogenetic Location: 6q21

Molecular Location on chromosome 6: base pairs 108,041,408 to 108,074,736

The OSTM1 gene is located on the long (q) arm of chromosome 6 at position 21.

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 108,041,408 to base pair 108,074,736 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?

  • GIPN
  • GL
  • HSPC019
  • OPTB5

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?

 

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.

 
Published: February 23, 2015