鍩哄洜鍚嶏細

Itpripl1

浜у搧鍒悕锛欬p style="text-indent: 2em;">1700041B20Rik锛 Itpripl1锛 inositol 1,4,5-triphosphate receptor interacting protein-like 1锛 inositol 1,4,5-triphosphate receptor interacting protein-like 1锛 inositol 1,4,5-trisphosphate receptor-interacting protein-like 1锛 ITPRIPL1铔嬬櫧锛

鑳屾櫙淇℃伅锛欬div style="text-indent: 2em;">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, Alstr榘 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.