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Immunogen sequence: GKAEELHYPL GERRSDYDRE ALLGVQEDVD EYVKLGHEEQ QKRLQAIIKK IDLDSDGFLT ESELSSWIQM SFKHYAMQEA KQQFVEYDKN SDDTVTWDEY NIQMYDRVID FDENTALDDA EEESFRKLHL KDKKRFEKAN QDSGPGLSLE EFIAFEHP; Positive Samples: HepG2, NCI-H460, Mouse brain, Mouse lung; Cellular Location: Endoplasmic reticulum lumen
The protein encoded by this gene is a calcium-binding protein located in the lumen of the ER. The protein contains six conserved regions with similarity to a high affinity Ca(+2)-binding motif, the EF-hand. This gene maps to the same region as type 4 Bardet-Biedl syndrome, suggesting a possible causative role for this gene in the disorder. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.
仅用于科研。不用于诊断过程。未经明确授权不得转售。