What is the official name of the DMRT1 gene?
The official name of this gene is “doublesex and mab-3 related transcription factor 1.”
DMRT1 is the gene's official symbol. The DMRT1 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 DMRT1 gene?
- From NCBI Gene:
This gene is found in a cluster with two other members of the gene family, having in common a zinc finger-like DNA-binding motif (DM domain). The DM domain is an ancient, conserved component of the vertebrate sex-determining pathway that is also a key regulator of male development in flies and nematodes. This gene exhibits a gonad-specific and sexually dimorphic expression pattern. Defective testicular development and XY feminization occur when this gene is hemizygous. [provided by RefSeq, Jul 2008]
- From UniProt:
Transcription factor that plays a key role in male sex determination and differentiation by controlling testis development and male germ cell proliferation. Plays a central role in spermatogonia by inhibiting meiosis in undifferentiated spermatogonia and promoting mitosis, leading to spermatogonial development and allowing abundant and continuous production of sperm. Acts both as a transcription repressor and activator: prevents meiosis by restricting retinoic acid (RA)-dependent transcription and repressing STRA8 expression and promotes spermatogonial development by activating spermatogonial differentiation genes, such as SOHLH1. Also plays a key role in postnatal sex maintenance by maintaining testis determination and preventing feminization: represses transcription of female promoting genes such as FOXL2 and activates male-specific genes. May act as a tumor suppressor. May also play a minor role in oogenesis.
How are changes in the DMRT1 gene related to health conditions?
- Genetics Home Reference provides information about Swyer syndrome, which is associated with changes in the DMRT1 gene.
- UniProt provides the following information about the DMRT1 gene's known or predicted involvement in human disease.
Testicular germ cell tumor (TGCT): A common malignancy in males representing 95% of all testicular neoplasms. TGCTs have various pathologic subtypes including: unclassified intratubular germ cell neoplasia, seminoma (including cases with syncytiotrophoblastic cells), spermatocytic seminoma, embryonal carcinoma, yolk sac tumor, choriocarcinoma, and teratoma. The disease may be caused by mutations affecting the gene represented in this entry.
46,XY sex reversal 4 (SRXY4): A condition characterized by male-to-female sex reversal in the presence of a normal 46,XY karyotype. Patients display complete or partial gonadal dysgenesis and a chromosome 9p deletion. The disease may be caused by mutations affecting the gene represented in this entry.
- OMIM.org, a catalog designed for genetics professionals and researchers, provides the following information about the DMRT1 gene and its association with health conditions.
Where is the DMRT1 gene located?
Cytogenetic Location: 9p24.3
Molecular Location on chromosome 9: base pairs 841,646 to 969,089
The DMRT1 gene is located on the short (p) arm of chromosome 9 at position 24.3.
More precisely, the DMRT1 gene is located from base pair 841,646 to base pair 969,089 on chromosome 9.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about DMRT1?
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 DMRT1 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 DMRT1?
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
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