background:
CCDC104 is a 342 amino acid protein that exists as two alternatively spliced isoforms. CCDC104 undergoes post-translational phosphorylation following DNA damage, most likely by either ATR or ATM. The gene encoding CCDC104 maps to human chromosome 2, the second largest human chromosome, which consists of 237 million bases, encodes over 1,400 genes and makes up approximately 8% of the human genome. A number of genetic diseases are linked to genes on chromosome 2. Harlequin icthyosis, a rare and morbid skin deformity, is associated with mutations in the ABCA12 gene. The lipid metabolic disorder sitosterolemia is associated with ABCG5 and ABCG8. An extremely rare recessive genetic disorder, Alstr syndrome is due to mutations in the ALMS1 gene.
Function:
May act as an effector for ARL3.
Subunit:
Interacts with ARL3.
Post-translational modifications:
Phosphorylated upon DNA damage, probably by ATM or ATR.
Database links:
UniProtKB/Swiss-Prot: Q96G28.2
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
|
|
