FAM193A
Description
The FAM193A (family with sequence similarity 193 member A) is a protein-coding gene located on chromosome 4.
The FAM193A gene, located on chromosome 4, encodes the protein Family with sequence similarity 193 member A. It is also known by other names, including C4orf8, chromosome 4 open reading frame 8, RES4-22, and hypothetical protein LOC86032. Analysis of its splicing reveals 11 transcripts, some with errors or truncated proteins. All transcripts share the same starting point, with differences in splicing affecting the 5'UTR. The protein contains three potential motifs, leucine zippers within coiled-coil structures, located in exons 5, 16, and 17. The gene is most highly expressed in embryonic, lymph node, nerve, uterus, testis, and larynx tissues, and to a lesser extent in blood. It is also expressed in various health states, including adrenal, chondrosarcoma, and uterine tumors, as well as in soft tissue and muscle tissue tumors.
FAM193A is also known as C4orf8, RES4-22.
Associated Diseases
- systemic lupus erythematosus
- alpha thalassemia-intellectual disability syndrome type 1
- hemolytic anemia due to adenylate kinase deficiency
- Heinz body anemia
- hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
- delta-beta-thalassemia
- hemoglobin D disease
- monosomy 7 myelodysplasia and leukemia syndrome 1
