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Invitrogen
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Immunogen sequence: STLGLRNCLN VPFGCCTPIH PVYTSSRGDH LGCWALRPEC LRIVSRAPWT STSVGFVAVG PQCLPVRGWH SSRPVRDDSV VEKSLKSL
Highest antigen sequence identity to the following orthologs: Mouse - 56%, Rat - 53%.
This gene encodes a protein that is localized to the inner mitochondrial membrane. The protein functions to maintain the mitochondrial tubular shapes and is required for normal mitochondrial morphology and cellular viability. Mutations in this gene cause Wolf-Hirschhorn syndrome, a complex malformation syndrome caused by the deletion of parts of the distal short arm of chromosome 4. Related pseudogenes have been identified on chromosomes 8, 15 and 19.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: Electroneutral mitochondrial K(+)/H(+)exchanger; KHE; LETM1 and EF-hand domain-containing protein 1, mitochondrial; leucine zipper-EF-hand containing transmembrane protein 1; Leucine zipper-EF-hand-containing transmembrane protein 1; Mdm38 homolog; Mitochondrial proton/calcium exchanger protein; unnamed protein product
基因别名: CONDMIM; KHE; LETM1; Mdm38; SLC55A1
UniProt ID: (Human) O95202
Entrez Gene ID: (Human) 3954