NME1-NME2
Description
The NME1-NME2 (NME1-NME2 readthrough) is a protein-coding gene located on chromosome 17.
NME1-NME2, also known as NM23-LV, is a human gene. Its mRNA is produced by co-transcription of the adjacent NME1 and NME2 genes. The function of this co-transcribed mRNA and its corresponding protein are not yet understood. Alternative splicing leads to different mRNA variants that encode distinct protein isoforms, although the complete sequence of each variant remains undefined.
The specific function of the NME1-NME2 protein product is currently unknown. It is thought to be generated through the co-transcription of the neighboring NME1 and NME2 genes, producing a single mRNA molecule that is then processed through alternative splicing. This process creates various isoforms with distinct sequences, though the full length of each variant is yet to be determined.
NME1-NME2 is also known as NM23-LV, NMELV.
Associated Diseases
- severe combined immunodeficiency due to CARD11 deficiency
- Mayer-Rokitansky-Kuster-Hauser syndrome
- hyper-IgM syndrome type 3
- hyper-IgE recurrent infection syndrome 5, autosomal recessive
- hepatorenocardiac degenerative fibrosis
- severe combined immunodeficiency due to CTPS1 deficiency
- 46,XX ovotesticular disorder of sex development
- duplication of urethra
- autoimmune lymphoproliferative syndrome type 2B
- colorectal cancer
- renal dysplasia
