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别 名: V-set and immunoglobulin domain containing 8
相关类别: 抗原
概 述
Full name: |
V-set and immunoglobulin domain containing 8 |
Swissprot: |
P0DPA2 |
Gene Accession: |
BC132893 |
Purity: |
>85%, as determined by Coomassie blue stained SDS-PAGE |
Expression system: |
Escherichia coli |
Tags: |
His tag C-Terminus, GST tag N-Terminus |
Background: |
VSIG8 (V-set and immunoglobulin domain-containing protein 8), also known as C1orf204, is a 414 amino acid single-pass type I membrane protein that contains two Ig-like V-type (immunoglobulin-like) domains. VSIG8 exists as two alternatively spliced isoforms and is encoded by a gene mapping to human chromosome 1q23.2. Chromosome 1 is the largest human chromosome spanning about 260 million base pairs and making up 8% of the human genome. The rare aging disease Hutchinson-Gilford progeria is associated with the LMNA gene which encodes lamin A. When defective, the LMNA gene product can build up in the nucleus and cause characteristic nuclear blebs. The MUTYH gene is located on chromosome 1 and is partially responsible for familial adenomatous polyposis. Stickler syndrome, Parkinsons, Gaucher disease and Usher syndrome are also associated with chromosome 1. A breakpoint has been identified in 1q which disrupts the DISC1 gene and is linked to schizophrenia. |