基因名:
HIGD1A
产品别名:
HIG1; RCF1a; HIGD1A; HIG1 hypoxia inducible domain family member 1A; HIG1 hypoxia inducible domain family member 1A; HIG1 domain family member 1A, mitochondrial; HIG1 domain family, member 1A; RCF1 homolog A; hypoxia inducible gene 1; hypoxia-inducible gene 1 protein; 低氧诱导域家族成员1A(HIGD1A); 缺氧诱导基因1蛋白/HIGD1A;
背景信息:
HIGD1A (HIG1 domain family member 1A), also known as HIG1 (hypoxia-inducible gene 1 protein) or HSPC010, is a 93 amino acid multi-pass membrane protein that contains one HIG1 domain. Existing as two alternatively spliced isoforms, the gene encoding HIGD1A maps to human chromosome 3, which contains approximately 214 million bases encoding over 1,100 genes. Notably, there is a chemokine receptor gene cluster and a variety of human cancer related loci on chromosome 3. Particular regions of the chromosome 3 short arm are deleted in many types of cancer cells. Key tumor suppressing genes on chromosome 3 encode apoptosis mediator RASSF1, cell migration regulator HYAL1 and angiogenesis suppressor SEMA3B. Marfan Syndrome, porphyria, von Hippel-Lindau syndrome, osteogenesis imperfecta and Charcot-Marie-Tooth Disease are a few of the numerous genetic diseases associated with chromosome 3.