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Immunogen sequence: MAVLLLLLRA LRRGPGPGPR PLWGPGPAWS PGFPARPGRG RPYMASRPPG DLAEAGGRAL QSLQLRLLTP TFEGINGLLL KQHLVQNPVR LWQLLGGTFY FNTSRLKQKN KEKDKSKGKA PEEDEEERRR RERDDQMYRE RLRTLLVIAV VMSLLNALST SGGSISWNDF VHEMLAKGEV QRVQVVPESD VVEVYLHPGA VVFGRPRLAL MYRMQVANID KFEEKLRAAE DELNIEAKDR IPVSYKRTGF; Positive Samples: U-87MG, MCF7, HT-29, K-562, Mouse brain, Mouse kidney, Mouse liver; Cellular Location: Mitochondrion membrane, Multi-pass membrane protein
This gene encodes a mitochondrial metalloprotease protein that is a member of the AAA family. Members of this protein family share an ATPase domain and have roles in diverse cellular processes including membrane trafficking, intracellular motility, organelle biogenesis, protein folding, and proteolysis. Mutations in this gene cause autosomal recessive spastic paraplegia 7. Two transcript variants encoding distinct isoforms have been identified.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: cell adhesion regulator; Cell matrix adhesion regulator; Mitochondrial inner membrane m-AAA protease component paraplegin; Paraplegin; paraplegin, isoform 1; spastic paraplegia 7 (pure and complicated autosomal recessive); Spastic paraplegia 7 protein
Gene Aliases: AI452278; AU015315; CAR; CMAR; PGN; SPG5C; SPG7
UniProt ID: (Human) Q9UQ90, (Mouse) Q3ULF4
Entrez Gene ID: (Human) 6687, (Mouse) 234847
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