Search results for abx029147

Inositol 1,4,5-Trisphosphate Receptor-Interacting Protein-Like 1 (ITPRIPL1) Antibody, Abbexa, abx029147

ITPRIPL1 (inositol 1, 4, 5-triphosphate receptor-interacting protein-like 1), also known as KIAA1754L, 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, Alstr?m syndrome is due to mutations in the ALMS1 gene. It has been hypothesized that human chromosome 2 is the result of an ancient fusion of two ancestral chromosome due to its composition of a vestigial second centromere and vestigial telomeres.