Description
Product Characteristics:
Non-imprinted in Prader-Willi/Angelman syndrome (NIPA) proteins are highly conserved receptors or transporters. A family known as the NIPA-like domain containing (NPAL) proteins are closely related to the NIPA proteins, but most are uncharacterized and their functions are unknown. NPAL2 (NIPA-like domain containing 2), also known as NIPAL2, is a 368 amino acid multi-pass membrane protein belonging to the NIPA family and is encoded by a gene located on human chromosome 8. Human chromosome 8 consists of nearly 146 million base pairs, houses more than 800 genes and is associated with a variety of diseases and malignancies. Schizophrenia, bipolar disorder, Trisomy 8, Pfeiffer syndrome, congenital hypothyroidism, Waardenburg syndrome and some leukemias and lymphomas are thought to occur as a result of defects in specific genes that map to chromosome 8.
Subcellular location: Cell membrane
Synonyms: NIPA like domain containing 2, NIPAL2, NPAL2, NPAL2_HUMAN.
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