Raft-linking protein 2, Raftlin-2, Rftn2, RFTN2_HUMAN.
Membrane microdomains known as lipid rafts are implicated in B-cell activation during B-cell receptor (BCR) signal initiation. Raftlin-2, also designated RFTN2 (raftlin family member 2) or raft-linking protein 2, is a 501 amino acid cell membrane protein that is essential for raft cell assembly and maintenance. A lipid anchor protein, Raftlin-2 belongs to the raftlin family and is encoded by a gene that maps to human chromosome 2q33.1 and mouse chromosome 1 C1.2. Human chromosome 2 is 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.
