COMMD3-BMI1
Description
The COMMD3-BMI1 (COMMD3-BMI1 readthrough) is a protein-coding gene located on chromosome 10.
The COMMD3-BMI1 gene in humans encodes the COMMD3-BMI1 readthrough protein. This locus represents naturally occurring read-through transcription between the neighboring COMM domain-containing protein 3 and polycomb complex protein BMI-1 genes on chromosome 10. The read-through transcript produces a fusion protein that shares sequence identity with each individual gene product.
The COMMD3-BMI1 gene on chromosome 10 produces a fusion protein through read-through transcription between the COMMD3 and BMI-1 genes. This fusion protein contains sequences from both individual gene products.
COMMD3-BMI1 is also known as BMI1, PCGF4, RNF51.
Associated Diseases
- autosomal recessive spondylocostal dysostosis
- isolated congenital hypogonadotropic hypogonadism
- ring chromosome Y
- Kallmann syndrome
- Perrault syndrome
- partial androgen insensitivity syndrome
- hypogonadotropic hypogonadism
- 46,XY partial gonadal dysgenesis
- hypogonadotropic hypogonadism 23 with or without anosmia
- 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome
- congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
- 46,XY complete gonadal dysgenesis
- Leydig cell hypoplasia
- primary hypergonadotropic hypogonadism-partial alopecia syndrome
- familial hyperprolactinemia
