LUC7L3
Description
The LUC7L3 (LUC7 like 3 pre-mRNA splicing factor) is a protein-coding gene located on chromosome 17.
LUC7L3, also known as Cisplatin resistance-associated overexpressed protein (CROP), is a human gene. It encodes a protein with distinct domains, including cysteine/histidine motifs, leucine zipper-like repeats, and RE and RS domains rich in arginine and glutamate or arginine and serine residues, respectively. This protein localizes to the nucleus in a speckled pattern, suggesting a role in the formation of the splicesome, the molecular machinery responsible for RNA splicing. Two alternatively spliced transcript variants encoding the same protein have been identified for this gene.
LUC7L3 binds to cAMP regulatory element DNA sequences, suggesting a potential role in gene regulation. Additionally, it may participate in RNA splicing, a crucial process for converting genetic information into functional proteins.
LUC7L3 is also known as CRA, CREAP-1, CROP, LUC7A, OA48-18, hLuc7A.
Associated Diseases
- primary familial polycythemia due to EPO receptor mutation
- dehydrated hereditary stomatocytosis
- hemolytic anemia due to diphosphoglycerate mutase deficiency
- hemolytic anemia due to erythrocyte adenosine deaminase overproduction
- erythrocytosis, familial, 6
- erythrocytosis, familial, 3
- cryohydrocytosis
- Rh deficiency syndrome
- elliptocytosis 2
- erythrocytosis, familial, 4
- pentosuria
- hereditary spherocytosis type 4
- familial pseudohyperkalemia
- overhydrated hereditary stomatocytosis
