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Sequence of this protein is as follows: KAEELHYPLG ERRSDYDREA LLGVQEDVDE YVKLGHEEQQ KRLQAIIKKI DLDSDGFLTE SELSSWIQMS FKHYAMQEAK QQFVEYDKNS DDTVTWDEYN IQMYDRVIDF DENTALDDAE EESFRKLHLK DKKRFEKANQ DSGPGLSLEE FIAFEHPEEV DYMTEFVIQE ALEEHDKNGD GFVSLEEFLG DYRWDPTANE DPEWILVEKD RFVNDYDKDN DGRLDPQELL PWVVPNNQGI AQEEALHLID EMDLNGDKKL SEEEILENPD LFLTSEATDY GRQLHDDYFY HDEL
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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: Calcium-binding protein ERC-55; E6-binding protein; E6BP; reticulocalbin 2, EF-hand calcium binding domain (endoplasmic reticulum calcium-binding protein, 55kD); Reticulocalbin-2
Gene Aliases: E6BP; ERC-55; ERC55; RCN2; TCBP49
UniProt ID: (Human) Q14257
Entrez Gene ID: (Human) 5955
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