UniProt Protein Function: | SAMD9: Defects in SAMD9 are the cause of normophosphatemic familial tumoral calcinosis (NFTC). NFTC is an uncommon life-threatening disorder characterized by massive periarticular, and seldom visceral, deposition of calcified tumors.Protein type: Unknown functionChromosomal Location of Human Ortholog: 7q21.2Cellular Component: intracellular membrane-bound organelle; cytoplasmMolecular Function: protein bindingDisease: Tumoral Calcinosis, Normophosphatemic, Familial |
UniProt Protein Details: | |
NCBI Summary: | This gene encodes a sterile alpha motif domain-containing protein. The encoded protein localizes to the cytoplasm and may play a role in regulating cell proliferation and apoptosis. Mutations in this gene are the cause of normophosphatemic familial tumoral calcinosis. Alternate splicing results in multiple transcript variants that encode the same protein.[provided by RefSeq, Jul 2010] |
UniProt Code: | Q5K651 |
NCBI GenInfo Identifier: | 300863105 |
NCBI Gene ID: | 54809 |
NCBI Accession: | NP_001180236.1 |
UniProt Secondary Accession: | Q5K651,Q5K649, Q6P080, Q75N21, Q8IVG6, Q9NXS8, A2RU68 |
UniProt Related Accession: | Q5K651 |
Molecular Weight: | 184,281 Da |
NCBI Full Name: | sterile alpha motif domain-containing protein 9 |
NCBI Synonym Full Names: | sterile alpha motif domain containing 9 |
NCBI Official Symbol: | SAMD9Â Â |
NCBI Official Synonym Symbols: | NFTC; OEF1; OEF2; DRIF1; C7orf5Â Â |
NCBI Protein Information: | sterile alpha motif domain-containing protein 9 |
UniProt Protein Name: | Sterile alpha motif domain-containing protein 9 |
UniProt Synonym Protein Names: | |
Protein Family: | Sterile alpha motif domain-containing protein |
UniProt Gene Name: | SAMD9Â Â |
UniProt Entry Name: | SAMD9_HUMAN |