Inositol-1,4,5-Triphosphate Receptor Interacting Protein Like Protein 1 (ITPRIPL1)

ITPRIPL1 is a 555 amino acid protein belonging to the ITPRIP family. ITPRIPL1 is a single-pass type I membrane protein expressed as two isoforms produced by alternative splicing events. The gene that encodes ITPRIPL1 maps to human chromosome 2, the second largest human chromosome, consisting of 237 million bases encoding over 1,400 genes and making 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, Alström syndrome is due to mutations in the ALMS1 gene.