DMRTC1 is a 182 amino acid nuclear protein that exists as three alternatively spliced isoforms and belongs to the DMRT family. Involved in sexual development, DMRTC1 is expressed in Sertoli cells in male testis but, unlike other DMRT family members, it does not contain a DM DNA-binding domain. The gene encoding DMRTC1 maps to the human X chromosome, which consists of about 153 million base pairs and nearly 1,000 genes. The combination of an X and Y chromosome lead to normal male development while two copies of X lead to normal female development. There are a number of conditions related to an unsual number and combination of sex chromosomes being inherited, including Klinefelter's syndrome, Turner's syndrome, and Triple X syndrome.
Function:
The vertebrate DMRT gene family encodes putative transcription factors related to the sexual regulators Doublesex (Drosophila) and MAB-3 (Worm).
Subcellular Location:
Nuclear
Tissue Specificity:
Predominantly expressed in kidney, pancreas, ovary and testis. Detected in brain and in many other tissues.
Similarity:
Belongs to the DMRT family.
SWISS:
Q5HYR2
Gene ID:
63947
Database links:
Entrez Gene: 63947 Human
Entrez Gene: 728656 Human
SwissProt: Q5HYR2 Human
Unigene: 558685 Human
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