family:PF06775.9 | rdf:type | pfam:Family | lld:pfam |
family:PF06775.9 | family:comment | Seipin is a protein of approximately 400 residues, in humans,which is the product of a gene homologous to the murine guanine nucleotide-binding protein (G protein) gamma-3 linked gene. This gene is implicated in the regulation of body fat distribution and insulin resistance and particularly in the auto-immune disease Berardinelli-Seip congenital lipodystrophy type 2. Seipin has no similarity with other known proteins or consensus motifs that might predict its function, but it is predicted to contain two transmembrane domains at residues 28-49 and 237-258, in human, and a third transmembrane domain might be present at residues 155-173. Seipin may also be implicated in Silver spastic paraplegia syndrome and distal hereditary motor neuropathy type V [1]. | lld:pfam |
family:PF06775.9 | family:id | Seipin | lld:pfam |
family:PF06775.9 | family:description | Putative adipose-regulatory protein (Seipin) | lld:pfam |
family:PF06775.9 | family:authorList | Moxon SJ, Coggill P | lld:pfam |
family:PF06775.9 | family:familyType | Family | lld:pfam |
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family:PF06775.9 | family:pubmed | pubmed-article:11479539 | lld:pfam |
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