RBCC Red Blood Cell Collection

SPSY_HUMAN

Source: PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: SMS
Protein names and data: SPSY_HUMAN , Spermine synthase; SPMSY; 2.5.1.22 , Spermidine aminopropyltransferase Lenght: 366 a.a.
Mass: 41268 Da
fasta formatted sequence
Function: Catalyzes the production of spermine from spermidine and decarboxylated S-adenosylmethionine (dcSAM).
Catalytic activity: S-adenosyl 3-(methylthio)propylamine + spermidine = S-methyl-5'-thioadenosine + spermine.
Pathway: Amine and polyamine biosynthesis; spermine biosynthesis; spermine from spermidine: step 1/1.
Disease: ( OMIM: 300105 309583 ) X-linked syndromic mental retardation Snyder-Robinson type (MRXSSR) [MIM:309583]: Characterized by moderate intellectual deficit, hypotonia, an unsteady gait, osteoporosis, kyphoscoliosis and facial asymmetry. Transmission is X-linked recessive. Note=The disease is caused by mutations affecting the gene represented in this entry.

Database cross-references

UniProt: P52788
Ensembl: ENST00000379404
Ensembl: ENST00000404933
MIM: 300105
MIM: 309583
neXtProt: NX_P52788
Antibodypedia: P52788 (may not find the protein thus also not any antibody)
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