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- Table of Contents
Facts about Sterile alpha motif domain-containing protein 9.
May be involved in endosome fusion. .
Human | |
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Gene Name: | SAMD9 |
Uniprot: | Q5K651 |
Entrez: | 54809 |
Belongs to: |
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No superfamily |
Sterile alpha motif domain-containing protein 9
Mass (kDA):
184.281 kDA
Human | |
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Location: | 7q21.2 |
Sequence: | 7; NC_000007.14 (93099513..93118023, complement) |
Widely expressed. Very low levels are detected in skeletal muscle. Not detected in brain. Down-regulated in aggressive fibromatosis, as well as in breast and colon cancers. Up-regulated in fibroblasts from patients with normophosphatemic tumoral calcinosis (NFTC).
Cytoplasm.
PMID: 17407603 by Li C.F., et al. Human sterile alpha motif domain 9, a novel gene identified as down- regulated in aggressive fibromatosis, is absent in the mouse.
PMID: 18094730 by Chefetz I., et al. Normophosphatemic familial tumoral calcinosis is caused by deleterious mutations in SAMD9, encoding a TNF-alpha responsive protein.