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Immunogen sequence: MSEDLAKQLA SYKAQLQQVE AALSGNGENE DLLKLKKDLQ EVIELTKDLL STQPSETLAS SDSFASTQPT HSWKVGDKCM AVWSEDGQCY EAEIEEIDEE NGTAAITFAG YGNAEVTPLL NLKPVEEGRK AKEDSGNKPM SKKEMIAQQR EYKKKKALKK AQRIKELEQE REDQKVKWQQ FNNRAYSKNK KGQVKRSIFA SPESVTGKVG VGTCGIADKP MTQYQDTSKY NVRHLMPQ
This gene is a paralog of SMN1 gene, which encodes the survival motor neuron protein, mutations in which are cause of autosomal recessive proximal spinal muscular atrophy. The protein encoded by this gene is a nuclear protein that has been identified as a constituent of the spliceosome complex. This gene is differentially expressed, with abundant levels in skeletal muscle, and may share similar cellular function as the SMN1 gene.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: 30 kDa splicing factor SMNrp; MGC106917; MGC112663; SMN related protein; SMN-related protein; splicing factor 30, survival of motor neuron-related; Survival motor neuron domain-containing protein 1; Survival of motor neuron-related-splicing factor 30; tudor domain containing 16C
Gene Aliases: SMNDC1; SMNR; SPF30; TDRD16C
UniProt ID: (Human) O75940
Entrez Gene ID: (Human) 10285
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