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- Product number
- ABIN954393 - Provider product page
- Provider
- antibodies-online
- Product name
- anti-Pyrroline-5-Carboxylate Reductase 1 (PYCR1) (AA 290-319), (C-Term) antibody
- Antibody type
- Polyclonal
- Description
- Purified through a Protein A column followed by peptide affinity purification
- Reactivity
- Human
- Host
- Rabbit
- Epitope
- AA 290-319, C-Term
- Vial size
- 0.4 mL
- Storage
- Store undiluted at 2-8°C for one month or (in aliquots) at -20°C for longer.
- Handling
- Avoid repeated freezing and thawing.
Submitted references Mutations in PYCR1 cause cutis laxa with progeroid features.
Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2.
Crystal structure of human pyrroline-5-carboxylate reductase.
Reversade B, Escande-Beillard N, Dimopoulou A, Fischer B, Chng SC, Li Y, Shboul M, Tham PY, Kayserili H, Al-Gazali L, Shahwan M, Brancati F, Lee H, O'Connor BD, Schmidt-von Kegler M, Merriman B, Nelson SF, Masri A, Alkazaleh F, Guerra D, Ferrari P, Nanda A, Rajab A, Markie D, Gray M, Nelson J, Grix A, Sommer A, Savarirayan R, Janecke AR, Steichen E, Sillence D, Hausser I, Budde B, Nürnberg G, Nürnberg P, Seemann P, Kunkel D, Zambruno G, Dallapiccola B, Schuelke M, Robertson S, Hamamy H, Wollnik B, Van Maldergem L, Mundlos S, Kornak U
Nature genetics 2009 Sep;41(9):1016-21
Nature genetics 2009 Sep;41(9):1016-21
Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2.
Guernsey DL, Jiang H, Evans SC, Ferguson M, Matsuoka M, Nightingale M, Rideout AL, Provost S, Bedard K, Orr A, Dubé MP, Ludman M, Samuels ME
American journal of human genetics 2009 Jul;85(1):120-9
American journal of human genetics 2009 Jul;85(1):120-9
Crystal structure of human pyrroline-5-carboxylate reductase.
Meng Z, Lou Z, Liu Z, Li M, Zhao X, Bartlam M, Rao Z
Journal of molecular biology 2006 Jun 23;359(5):1364-77
Journal of molecular biology 2006 Jun 23;359(5):1364-77
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