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pfam05463: Sclerostin 
Sclerostin (SOST)
This family contains several mammalian sclerostin (SOST) proteins. SOST is thought to suppress bone formation. Mutations of the SOST gene lead to sclerosteosis, a progressive sclerosing bone dysplasia with an autosomal recessive mode of inheritance. Radiologically, it is characterized by a generalised hyperostosis and sclerosis leading to a markedly thickened and sclerotic skull, with mandible, ribs, clavicles and all long bones also being affected. Due to narrowing of the foramina of the cranial nerves, facial nerve palsy, hearing loss and atrophy of the optic nerves can occur. Sclerosteosis is clinically and radiologically very similar to van Buchem disease, mainly differentiated by hand malformations and a large stature in sclerosteosis patients.
Statistics
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PSSM-Id: 253205
View PSSM: pfam05463
Aligned: 4 rows
Threshold Bit Score: 320.318
Threshold Setting Gi: 123888977
Created: 29-Mar-2013
Updated: 4-Apr-2013
Structure
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Aligned Rows:

pfam05463 is a member of the superfamily cl05171.
Sequence Alignment
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Format: Row Display: Color Bits: Type Selection:
                         10        20        30        40        50        60        70        80
                 ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 75571637    6 LQCCMLY-FACIFIESCM---------SFKNDATEILYSHVDKNIQ-ESANSSALNQARNGGRHTANSaMDRTNPHQVGC 74
gi 62287906    6 IHLSLIP-LLCILMRNCL---------AFKNDATEILYSHVVKPVPaHPSSNSTLNQARNGGRHFSSTgLDRNSRVQVGC 75
gi 123888977   6 CEYQLLF-LLCFLMKSCH---------AFKNDATEEFNRHALASAQ-ETPNNASLNRARNGGRRPESR--HQTEQHQVGC 72
gi 20140197    1 MQPSLAPcLICLLVHAAFcavegqgwqAFRNDATEVIPGLGEYPEP-PPENNQTMNRAENGGRPPHHP-YDAKGVSEYSC 78
                         90       100       110       120       130       140       150       160
                 ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 75571637   75 RELRSTKYISDGQCTSIQPLKELVCAGECLPLPILPNWIGGGYglkYWSRRSSQEWRCVNDKTRTQRIQLQCEDGTT-RT 153
gi 62287906   76 RELRSTKYISDGQCTSISPLKELVCAGECLPLPVLPNWIGGGYgtkYWSRRSSQEWRCVNDKTRTQRIQLQCQDGST-RT 154
gi 123888977  73 RELRSTKYISDGQCTSLNPVKELVCAGECLPTHLLPNWIGGGH---YWSRRDAQEWRCVTDRTRTQRIKLQCQDGTT-RT 148
gi 20140197   79 RELHYTRFLTDGPCRSAKPVTELVCSGQCGPARLLPNAIGRVK----WWRPNGPDFRCIPDRYRAQRVQLLCPGGAApRS 154
                        170       180       190       200       210       220
                 ....*....|....*....|....*....|....*....|....*....|....*....|
gi 75571637  154 YKVTVVTSCKCKRYTRQHNESSHNYEGASPMKPihslqhhhSHHNRDKKRLIKMSKHIPS 213
gi 62287906  155 YKITVVTACKCKRYTRQHNESSHNFESVSPAKP--------AQHHRERKRASKSSKHSLS 206
gi 123888977 149 YKITAVTSCTCKRYTRQNNESSHAPQSHSKDHP----------LQSPKKKKSKNKNSKLT 198
gi 20140197  155 RKVRLVASCKCKRLTRFHNQSELKDFGPETARPq------kGRKPRPGARGAKANQAELE 208
Citing CDD
Marchler-Bauer A et al. (2013), "CDD: conserved domains and protein three-dimensional structure.", Nucleic Acids Res. 41(D1):D384-52.
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