| Gene Summary for SEC422N1 |
|---|
| Functional Category: |
inhibitor |
| Cell Location: |
extracellular |
| OST/GST: |
|
| Original Accession #: |
IPI00019272 |
| Mouse Nucleotide Accession #: |
NM_024449 |
| Human Nucleotide Accession #: |
NM_025237 |
|
|
| Summary: |
| No summary available. |
|
| Mouse Gene Sequence Information |
|---|
 |
Nucleotide Reference: |
NM_024449 ACCESSION:NM_024449 NID:14209687 Mus musculus Mus musculus sclerostin (Sost), mRNA. mouse_refseq |
|
Protein Reference: |
Q99P68 ACCESSION:Q99P68 NID: Mus musculus (Mouse). SCLEROSTIN PRECURSOR. MOUSESPTRNRDB |
|
Entrez Gene: |
74499 |
| Human Gene Sequence Information |
|---|
|
Nucleotide Reference: |
NM_025237 ACCESSION:NM_025237 NID:13376845 Homo sapiens Homo sapiens sclerosteosis (SOST), mRNA. hs_refseq |
|
Protein Reference: |
Q9BQB4 ACCESSION:Q9BQB4 NID: Homo sapiens (Human). SCLEROSTIN PRECURSOR. HUMANSPTRNRDB |
|
Entrez Gene: |
50964 |
| Bibliographic References |
|---|
| Title |
Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST). |
| Author[s] |
Balemans W, Ebeling M, Patel N, Van Hul E, Olson P, Dioszegi M, Lacza C, Wuyts W, Van Den Ende J, Willems P, Paes-Alves AF, Hill S, Bueno M, Ramos FJ, Tacconi P, Dikkers FG, Stratakis C, Lindpaintner K, Vickery B, Foernzler D, Van Hul W |
| Journal |
Hum Mol Genet. 03-1-2001; 10:537-43 |
|
| Title |
Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cystine knot-containing protein. |
| Author[s] |
Brunkow ME, Gardner JC, Van Ness J, Paeper BW, Kovacevich BR, Proll S, Skonier JE, Zhao L, Sabo PJ, Fu Y, Alisch RS, Gillett L, Colbert T, Tacconi P, Galas D, Hamersma H, Beighton P, Mulligan J |
| Journal |
Am J Hum Genet. 03-2001; 68:577-89 |
|
| Title |
Sclerostin Is an Osteocyte-expressed Negative Regulator of Bone Formation, But Not a Classical BMP Antagonist. |
| Author[s] |
Van Bezooijen Rutger L, Roelen Bernard A J, Visser Annemieke, Van Der Wee-Pals Lianne, De Wilt Edwin, Karperien Marcel, Hamersma Herman, Papapoulos Socrates E, Ten Dijke Peter, L¿wik Clemens W G M |
| Journal |
J Exp Med. 03/15/2004; 199:805-14 |
|
|
| Title |
Osteocyte control of bone formation via sclerostin, a novel BMP antagonist. |
| Author[s] |
Winkler David G, Sutherland May Kung, Geoghegan James C, Yu Changpu, Hayes Trenton, Skonier John E, Shpektor Diana, Jonas Mechtild, Kovacevich Brian R, Staehling-Hampton Karen, Appleby Mark, Brunkow Mary E, Latham John A |
| Journal |
EMBO J. 12/01/2003; 22:6267-76 |
|
|
| Mutation Information |
|---|
| Mutation Type: |
Homologous Recombination (standard) |
| Description: |
Coding exons 1 and 2 were targeted (NCBI accession AK017295.1). |
|
