Description
Product Characteristics:
GRAMD2 is a 354 amino acid single-pass membrane protein that contains one GRAM domain and is encoded by a gene that maps to human chromosome 15q23. Encoding more than 700 genes, chromosome 15 is made up of approximately 106 million base pairs and is about 3 % of the human genome. Angelman and Prader-Willi syndromes are associated with loss of function or deletion of genes in the 15q11-q13 region. In the case of Angelman syndrome, this loss is due to inactivity of the maternal 15q11-q13 encoded UBE3A gene in the brain by either chromosomal deletion or mutation. In cases of Prader-Willi syndrome, there is a partial or complete deletion of this region from the paternal copy of chromosome 15. Tay-Sachs disease is a lethal disorder associated with mutations of the HEXA gene, which is encoded by chromosome 15. Marfan syndrome is associated with chromosome 15 through the FBN1 gene.
Subcellular location: Cell membrane
Synonyms: GRAM domain containing 2, GRAM domain containing protein 2, GRAMD 2, GRAM2_HUMAN.
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